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Two New Treatments for IPF

Posted on October 15, 2014 by CVCinfo

Esbriet

FDA approves Esbriet to treat idiopathic pulmonary fibrosis.

October 15, 2014

The U.S. Food and Drug Administration today approved Esbriet (pirfenidone) for the treatment of idiopathic pulmonary fibrosis (IPF).

Idiopathic pulmonary fibrosis is a condition in which the lungs become progressively scarred over time. As a result, patients with IPF experience shortness of breath, cough, and have difficulty participating in everyday physical activities. Current treatments for IPF include oxygen therapy, pulmonary rehabilitation, and lung transplant.

“Esbriet provides a new treatment option for patients with idiopathic pulmonary fibrosis, a serious, chronic lung disease,” said Curtis J. Rosebraugh, M.D., M.P.H., director of the Office of Drug Evaluation II in the FDA’s Center for Drug Evaluation and Research. “We continue to help advance medication therapies by approving products that treat conditions that impact public health.”

The FDA granted Esbriet fast track, priority review, orphan product, and breakthrough designations. Esbriet is being approved ahead of the product’s prescription drug user fee goal date of Nov. 23, 2014, the date the agency was scheduled to complete the review of the drug application.

Esbriet acts on multiple pathways that may be involved in the scarring of lung tissue. Its safety and effectiveness were established in three clinical trials of 1,247 patients with IPF. The decline in forced vital capacity – the amount of air which can be forcibly exhaled from the lungs after taking the deepest breath possible – was significantly reduced in patients receiving Esbriet compared to patients receiving placebo.

Esbriet is not recommended for patients who have severe liver problems, end-stage kidney disease, or who require dialysis. Esbriet should be taken with food to minimize the potential for nausea and dizziness. Patients should avoid or minimize exposure to sunlight and sunlamps and wear sunscreen and protective clothing, as Esbriet may cause patients to sunburn more easily.

The most common side effects of Esbriet are nausea, rash, abdominal pain, upper respiratory tract infection, diarrhea, fatigue, headache, dyspepsia, dizziness, vomiting, decreased/loss of appetite, gastro-esophageal reflux disease, sinusitis, insomnia, decreased weight, and arthralgia.

The FDA also today approved Ofev (nintedanib) for the treatment of IPF.

Esbriet is manufactured for InterMune, Inc., Brisbane, California.

The FDA, an agency within the U.S. Department of Health and Human Services, protects the public health by assuring the safety, effectiveness, and security of human and veterinary drugs, vaccines and other biological products for human use, and medical devices. The agency also is responsible for the safety and security of our nation’s food supply, cosmetics, dietary supplements, products that give off electronic radiation, and for regulating tobacco products.

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Ofev

FDA approves Ofev to treat idiopathic pulmonary fibrosis.

October 15, 2014

The U.S. Food and Drug Administration today approved Ofev (nintedanib) for the treatment of idiopathic pulmonary fibrosis (IPF).

“Today’s Ofev approval expands the available treatment options for patients with idiopathic pulmonary fibrosis, a serious, chronic condition,” said Mary H. Parks, M.D., deputy director of the Office of Drug Evaluation II in the FDA’s Center for Drug Evaluation and Research. “Providing health care professionals and patients with additional treatment options helps enable appropriate care decisions based on a patient’s need.”

The FDA granted Ofev fast track, priority review, orphan product, and breakthrough designations. Ofev is being approved ahead of the product’s prescription drug user fee goal date of Jan. 2, 2015, the date the agency was scheduled to complete the review of the drug application.

Ofev is a kinase inhibitor that blocks multiple pathways that may be involved in the scarring of lung tissue. Its safety and effectiveness were established in three clinical trials of 1,231 patients with IPF. The decline in forced vital capacity – the amount of air which can be forcibly exhaled from the lungs after taking the deepest breath possible – was significantly reduced in patients receiving Ofev compared to patients receiving placebo.

Ofev is not recommended for patients who have moderate to severe liver problems. Ofev can cause birth defects or death to an unborn baby. Women should not become pregnant while taking Ofev. Women who are able to get pregnant should use adequate contraception during and for at least three months after the last dose of Ofev.

The most common side effects of Ofev are diarrhea, nausea, abdominal pain, vomiting, liver enzyme elevation, decreased appetite, headache, decreased weight, and high blood pressure.

The FDA also today approved Esbriet (pirfenidone) for the treatment of IPF.

Ofev is distributed by Boehringer Ingelheim Pharmaceuticals, Inc., Ridgefield, Connecticut.

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Pirfenidone

InterMune Announces Expanded Access Program for Pirfenidone to Treat Idiopathic Pulmonary Fibrosis (IPF) in the United States

Date(s): 5/16/14 8:00 AM

For a complete listing of InterMune news releases, please click here

BRISBANE, Calif., May 16, 2014 /PRNewswire/ — InterMune, Inc. (NASDAQ: ITMN) today announced it will provide compassionate use of pirfenidone through a multi-center Expanded Access Program (EAP) in the United States to be conducted under InterMune’s U.S. IND. Pirfenidone is an investigational therapy in the U.S. and has not been approved by the U.S. Food and Drug Administration (FDA).

Expanded access programs provide a mechanism for early access to an investigational drug in the pre-approval period to treat patients with a serious or immediately life-threatening disease or condition that has no comparable or satisfactory alternative treatment options.

“We are pleased to offer this expanded access program for eligible patients in the U.S.,” said Jonathan Leff, M.D., Executive Vice President of Research and Development, InterMune. “This EAP provides a mechanism for eligible patients to access pirfenidone as a treatment option, following the recent successful completion of our ASCEND Phase 3 trial and prior to FDA’s final decision on the approvability of pirfenidone in the United States.”

To enroll in the EAP, a patient must meet specific clinical criteria. Eligible patients must have a clinical and radiographic diagnosis of IPF with the presence of a usual interstitial pneumonia (UIP) pattern on high-resolution computed tomography (HRCT). Additional criteria for the EAP are listed on www.clinicaltrials.gov. It is important to note that only a physician who is participating in the EAP can assess a potential patient for eligibility. The EAP protocol contains provisions for stopping enrollment of patients in the EAP upon a decision by the FDA on the approvability of a pirfenidone New Drug Application (NDA).

There are currently a limited number of sites accepting patients for enrollment to the pirfenidone EAP and InterMune expects that all sites will be participating by September of 2014. InterMune is working with the Pulmonary Fibrosis Foundation (PFF), the Coalition for Pulmonary Fibrosis (CPF) and other advocacy groups to enable patients with IPF to obtain information about the pirfenidone EAP.

For more information about the pirfenidone EAP, including eligibility criteria and participating clinical centers, contact InterMune Medical Information at 888-486-6411 or the Pulmonary Fibrosis Foundation (PFF) at 844-TalkPFF (844-825-5733) or visit www.clinicaltrials.gov.

About IPF
Idiopathic pulmonary fibrosis (IPF) is an irreversible and ultimately fatal disease characterized by progressive loss of lung function due to fibrosis (scarring) in the lungs, which hinders the ability of lungs to absorb oxygen. IPF inevitably causes shortness of breath, and a deterioration in lung function and exercise tolerance. IPF patients follow different and unpredictable clinical courses and it is not possible to predict if a patient will progress slowly or rapidly, or when the rate of decline may change. Periods of transient clinical stability in IPF, when they occur, inevitably give way to continued disease progression. The median survival time from diagnosis is two to five years, with a five-year survival rate of approximately 20-40 percent, which makes IPF more rapidly lethal than many malignancies, including breast, ovarian and colorectal cancers. IPF typically occurs in patients over age 45, and tends to affect slightly more men than women.

About Pirfenidone
Pirfenidone is an orally active, anti-fibrotic agent that inhibits the synthesis of TGF-beta, a chemical mediator that controls many cell functions including proliferation and differentiation, and plays a key role in fibrosis. Pirfenidone also inhibits the synthesis of TNF-alpha, a cytokine that is known to have an active role in inflammation.

About InterMune
InterMune is a biotechnology company focused on the research, development and commercialization of innovative therapies in pulmonology and orphan fibrotic diseases. In pulmonology, the company is focused on therapies for the treatment of idiopathic pulmonary fibrosis (IPF), a progressive, irreversible, unpredictable and ultimately fatal lung disease. Pirfenidone is not approved for marketing in the United States. InterMune’s research programs are focused on the discovery of targeted, small-molecule therapeutics and biomarkers to treat and monitor serious pulmonary and fibrotic diseases. For additional information about InterMune and its R&D pipeline, please visit www.intermune.com.

Forward-Looking Statements
This news release contains forward-looking statements within the meaning of section 21E of the Securities Exchange Act of 1934, as amended, that reflect InterMune’s judgment and involve risks and uncertainties as of the date of this release, including without limitation InterMune’s expectations regarding the availability of its Expanded Access Program for patients in the U.S. with IPF. All forward-looking statements and other information included in this press release are based on information available to InterMune as of the date hereof, and InterMune assumes no obligation to update any such forward-looking statements or information. InterMune’s actual results could differ materially from those described in InterMune’s forward-looking statements.

Other factors that could cause or contribute to such differences include, but are not limited to, those discussed in detail under the heading “Risk Factors” in InterMune’s most recent annual report on Form 10-K filed with the Securities and Exchange Commission (SEC) on February 24, 2014 (the “Form 10-K”) and other periodic reports filed with the SEC, including but not limited to the following: (i) the risks related to the uncertain, lengthy and expensive clinical development process for the company’s product candidates, including having no unexpected safety, toxicology, clinical or other issues and having no unexpected clinical trial results such as unexpected new clinical data and unexpected additional analysis of existing clinical data; (ii) risks related to the regulatory process for the company’s product candidates, including the possibility that the results of the new 52-week Phase 3 clinical trial (ASCEND) having an FVC endpoint may not be satisfactory to the FDA for InterMune to receive regulatory approval for pirfenidone in the United States; (iii) risks related to unexpected regulatory actions or delays or government regulation generally; and (iv) risks related to the company’s manufacturing strategy, which relies on third-party manufacturers and which exposes InterMune to additional risks where it may lose potential revenue. The risks and other factors discussed above should be considered only in connection with the fully discussed risks and other factors discussed in detail in the Form 10-K and InterMune’s other periodic reports filed with the SEC, all of which are available via InterMune’s web site at www.intermune.com.

SOURCE InterMune, Inc.

Investors: Jim Goff, InterMune, Inc., 415-466-2228, [email protected], Media: Geoff Curtis, Edelman, 312-550-8138, [email protected]

SABRIL

FOR IMMEDIATE RELEASE

Lundbeck’s SABRIL® (vigabatrin) Now Approved by U.S. FDA as an Adjunctive Treatment Option for Children 10 and older with Refractory Complex Partial Seizures

Deerfield, Ill., October 28, 2013 – The U.S. Food and Drug Administration (FDA) approved SABRIL (vigabatrin) as add-on therapy for the treatment of refractory complex partial seizures (CPS) in children 10 years of age and older who have inadequately responded to several other treatments and if the possible benefit outweighs the risk of vision loss.¹ This approval expands upon the age range of SABRIL’s previous indication as adjunctive therapy for adults with refractory CPS. SABRIL is not indicated as a first-line agent for refractory CPS.

Of the more than two million Americans affected by epilepsy,² approximately 35 percent have CPS, which originates from a single region of the brain and can cause impaired consciousness.³ Approximately 30 to 36 percent of those with CPS continue to have seizures despite trying multiple therapies, and are considered to have refractory CPS.^4,5,6

“It is crucially important for people with challenging seizures like refractory CPS to not give up and continue striving for improved seizure management, and this expanded Sabril indication provides another consideration for the treatment of those ten and older with refractory CPS,” said Philip Gattone, president and CEO of the Epilepsy Foundation. “We encourage people living with such challenging seizures and their loved ones to have ongoing conversations with their doctor about available options to help manage this intractable seizure disorder.”

When SABRIL was first approved in 2009, a patient registry was established to collect information on all patients who are prescribed SABRIL. To date, more than 5,600 patients have been treated with SABRIL, a substantial number of whom have been treated for refractory CPS.⁷ In evaluating whether to start SABRIL, doctors, patients and their caregivers work together to assess the risk of permanent vision loss versus the benefit of seizure reduction. There are other serious risks associated with SABRIL. Please see the important safety information below for more details.

“With so many children still having seizures due to refractory CPS, we are very pleased that the FDA has approved SABRIL for patients 10 and older who may benefit from a new add-on treatment option,” said Amy Magro, Director of Epilepsy Marketing at Lundbeck. “For those caring for a child as young as 10, we hope this new indication provides encouragement to speak with their child’s doctor about the risks and potential benefits of adding SABRIL for refractory CPS.”

In addition to its refractory CPS indication, SABRIL is approved for use in babies one month to two years of age with infantile spasms if the possible benefit outweighs the potential risk of vision loss.

For more information, please visit www.SABRIL.net.

About SABRIL® (vigabatrin) ¹SABRIL is a prescription oral antiepileptic drug developed in the United States by Lundbeck. SABRIL is available in 500-mg tablets or 500-mg packets of powder for oral suspension. Because of the risk of permanent vision loss, SABRIL is available only through a restricted program under a REMS called the SHARE Program. (1-888-45-SHARE).

Use
SABRIL (vigabatrin) is a prescription medicine used with other treatments in adults and children 10 years of age and older with refractory complex partial seizures (CPS), who have not responded well enough to several other treatments, and if the possible benefits outweigh the risk of vision loss. SABRIL should not be the first medicine used to treat CPS.

SABRIL (vigabatrin) is a prescription medicine used in babies, 1 month to 2 years old, with infantile spasms (IS), if the possible benefits outweigh the possible risk of vision loss.

Important Safety Information

WARNING: VISION LOSS

See Medication Guide and full Prescribing Information for complete information

In all people who take SABRIL:

• You are at risk for vision loss with any amount of SABRIL

• Your risk of vision loss may be higher the more SABRIL you take daily and the longer you take it

• It is not possible for your healthcare provider to know when vision loss will happen. It could happen soon after starting SABRIL or any time during treatment. It may even happen after treatment has stopped.

SABRIL can permanently damage the vision of anyone who takes it. The most noticeable loss is in the ability to see to the side when looking straight ahead (peripheral vision). If this happens, it will not get better. People who take SABRIL do not lose all of their vision, but some people can have severe loss and may only be able to see things straight in front of them (sometimes called “tunnel vision”), and they may also have blurry vision.
Tell your healthcare provider right away if you (or your child): might not be seeing as well as before starting SABRIL; start to trip, bump into things, or are more clumsy than usual; are surprised by people or things coming in front of you that seem to come out of nowhere; or if your baby is acting differently than normal. These changes can mean that vision damage has occurred.
Your healthcare provider will test your (or your child’s) vision before or within 4 weeks after starting SABRIL, and at least every 3 months during treatment until SABRIL is stopped. Vision should also be tested about 3 to 6 months after SABRIL is stopped. You (or your child) may not be able to be tested in certain situations. It is difficult to test vision in babies, but to the extent possible, all babies should have their vision tested. Your healthcare provider will determine if testing can be done. Regular vision testing is important because damage can happen before any changes are noticed.
Vision tests cannot prevent the vision damage that can happen with SABRIL, but they do allow SABRIL to be stopped if vision has gotten worse, which usually will lessen further damage. Even these regular vision tests may not show vision damage before it is serious and permanent. Parents, caregivers, and healthcare providers may not recognize the symptoms, or find vision loss in babies, until it is severe.
If vision tests are not done regularly, your healthcare provider may stop prescribing SABRIL for you (or your child). Some people are not able to complete vision testing. If vision testing cannot be done, your healthcare provider may continue prescribing SABRIL, but will not be able to watch for any vision loss.
Brain pictures taken by magnetic resonance imaging (MRI) show changes in some babies after they are given SABRIL. It is not known if these changes are harmful.
Like other antiepileptic drugs, SABRIL may cause suicidal thoughts and actions in some people. Call a healthcare provider right away if you (or your child) have any symptoms, especially sudden changes in mood, behaviors, thoughts or feelings, and especially if they are new, worse, or worry you.
Do not stop SABRIL without first talking to a healthcare provider. Stopping SABRIL suddenly can cause seizures that will not stop.
SABRIL can cause serious side effects such as low red blood cell counts, sleepiness and tiredness, nerve problems, weight gain, and edema. Because SABRIL causes sleepiness and tiredness, do not drive, operate machinery, or perform hazardous tasks, unless it is decided that these things can be done safely. SABRIL may make certain types of seizures worse. Tell your healthcare provider right away if seizures get worse.
Before starting SABRIL, tell your doctor about all of your (or your child’s) medical conditions including depression, mood problems, suicidal thoughts or behavior, any allergic reaction to SABRIL, vision problems, kidney problems, low red blood cell counts, and any nervous or mental illness. Tell your doctor about all the medicines you (or your child) take.
If you are breastfeeding or plan to breastfeed, SABRIL can pass into breast milk and may harm your baby. If you are pregnant or plan to become pregnant, it is not known if SABRIL will harm your unborn baby. You and your healthcare provider will have to decide if you should take SABRIL while you are pregnant.
The most common side effects of SABRIL in adults include: problems walking or feeling uncoordinated, feeling dizzy, shaking (tremor), joint pain, memory problems and not thinking clearly, eye problems like blurry vision, double vision, and eye movements that cannot be controlled. The most common side effects of SABRIL in children 10 to 16 years of age include weight gain, upper respiratory tract infection, tiredness, and aggression. Also expect side effects like those seen in adults.
The most common side effects of SABRIL in babies include: sleepiness—some babies may have a harder time suckling and feeding or may be irritable, swelling in the bronchial tubes (bronchitis), ear infection, and irritability.
Tell your healthcare provider if you or your child has any side effect that bothers you or that does not go away. These are not all of the possible side effects of SABRIL. For more information, ask your healthcare provider or pharmacist.

Please see SABRIL Medication Guide, full Prescribing Information including Boxed Warning, and Instructions for Use; go to www.sabril.net, or call toll-free 1-888-45-SHARE (1-888-457-4273).

You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.

About Lundbeck in the U.S.
A wholly owned subsidiary of H. Lundbeck A/S of Denmark, Lundbeck in the United States is headquartered in Deerfield, Illinois, and is committed to providing innovative specialty therapies that fulfill unmet medical needs of people with central nervous system (CNS) disorders, including several therapies for people with challenging seizure disorders.

With a special commitment to the epilepsy community, Lundbeck actively supports and participates in hundreds of community-based initiatives. Learn more about our epilepsy community programs at http://www.lundbeck.com/us/our-commitment/community-involvement.

About H. Lundbeck A/S
Lundbeck is a global pharmaceutical company highly committed to improving the quality of life of people living with brain diseases. For this purpose, Lundbeck is engaged in the entire value chain throughout research, development, production, marketing and sales of pharmaceuticals across the world. The company’s products are targeted at disorders such as depression and anxiety, psychotic disorders, epilepsy, Huntington’s, Alzheimer’s and Parkinson’s diseases. Lundbeck’s pipeline consists of several mid- to late-stage development programs.

Lundbeck employs more than 5,800 people worldwide, 2,000 of whom are based in Denmark. We have employees in 57 countries and our products are registered in more than 100 countries. We have research centers in Denmark, China and the United States and production facilities in Italy, France, Mexico, China and Denmark. Lundbeck generated revenue of approximately DKK 15 billion in 2012. Lundbeck’s shares are listed on the stock exchange in Copenhagen under the symbol “LUN.” Lundbeck has a sponsored Level 1 ADR programme listed in the US (OTC) under the symbol “HLUYY.” For additional information, we encourage you to visit our corporate site www.lundbeck.com.

Sources

SABRIL® (vigabatrin) full Prescribing Information, Deerfield, IL. Lundbeck. 2013.
Epilepsy Foundation. About Epilepsy: Statistics. http://www.epilepsyfoundation.org/aboutepilepsy/index.cfm/statistics. Accessed 10/2/13.
Carroll E. Medscape. Complex Partial Seizures. http://emedicine.medscape.com/article/1183962-overview. Accessed 10/2/13.
Kwan P, Brodie MJ. Early identification of refractory epilepsy. N Engl J Med. 2000; 342:314-9.
Devinsky O. Patients with refractory seizures. N Engl J Med. 1999;340:1565-70.
Rielo DM. Medscape. Vagus Nerve Stimulation. 2011. http://emedicine.medscape.com/article/1186123-overview. Accessed 10/2/13.
Data on File.

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CONTACT:
Matt Flesch
847-282-1154

SABRIL is a registered trademark of Lundbeck.

VGB-B-00018

Opsumit

Actelion receives U.S. FDA approval of Opsumit (macitentan) for the treatment of pulmonary arterial hypertension.

Allschwil, Switzerland, October 18, 2013 – Actelion Ltd (SIX: ATLN) announced today that the United States Food and Drug Administration (FDA) has approved the use of the orally available endothelin receptor antagonist Opsumit® (macitentan) 10 mg once daily for the treatment of pulmonary arterial hypertension (PAH) to delay disease progression.

Opsumit is indicated for the treatment of pulmonary arterial hypertension (PAH, WHO Group I) to delay disease progression. Disease progression included: death, initiation of intravenous (IV) or subcutaneous prostanoids, or clinical worsening of PAH (decreased 6-minute walk distance, worsened PAH symptoms and need for additional PAH treatment). Opsumit also reduced hospitalization for PAH.

Effectiveness was established in a long-term study in PAH patients with predominantly WHO Functional Class II-III symptoms treated for an average of 2 years. Patients were treated with Opsumit® monotherapy or in combination with phosphodiesterase-5 inhibitors or inhaled prostanoids. Patients had idiopathic and heritable PAH (57%), PAH caused by connective tissue disorders (31%), and PAH caused by congenital heart disease with repaired shunts (8%).

Dr. Vallerie McLaughlin, Director of the Pulmonary Hypertension Program in the Division of Cardiovascular Medicine at the University of Michigan, commented: “Over the past twenty years, great strides have been made in treating PAH patients. However, there has been a medical need for innovative treatments that improve long-term outcomes. Opsumit® is the first clinically proven and only oral treatment option indicated to delay disease progression and reduce the need for PAH hospitalization.”

Dr. McLaughlin concluded: “These effects were demonstrated in SERAPHIN, the first and largest PAH outcome study to date, where Opsumit® was given on average for 2 years, as a monotherapy or in combination with phosphodiesterase-5 inhibitors or inhaled prostanoids. I am very pleased that PAH patients will have this new treatment option.”

Jean-Paul Clozel, M.D. and Chief Executive Officer of Actelion commented: “Today’s approval of Opsumit® by the FDA is providing the PAH community with a unique treatment option, the only oral PAH medicine that has proven to delay disease progression. Over the last 14 years, Actelion has worked tirelessly to first discover and then develop Opsumit® in the largest, longest and first-ever outcome study in PAH. I would like to express my gratitude to all the members of the PAH community. Without their contribution, Opsumit® would not have become a reality. We will now leverage our existing PAH expertise and infrastructure to bring Opsumit® to patients within the coming weeks.”

The US label for Opsumit® carries a Boxed Warning alerting patients and health care professionals that the drug should not be used in pregnant women because it can harm the developing fetus. Female patients can receive the drug only through the Opsumit REMS Program. All female patients must be enrolled in the program, comply with pregnancy testing requirements and be counselled regarding the need for contraception.

The most common adverse reactions (more frequent than placebo by 3% or more) observed in patients treated with Opsumit® were anemia, nasopharyngitis/pharyngitis, bronchitis, headache, influenza, and urinary tract infection.

Physicians are advised to measure hemoglobin and liver enzymes prior to initiation of Opsumit® and repeat during treatment as clinically indicated.

In the United States, Actelion expects Opsumit® to become available to patients in November. Outside of the United States, Actelion continues to work with health authorities to obtain regulatory approval for Opsumit® .

The FDA approval was based in part on data from the landmark phase III SERAPHIN study. Published in the New England Journal of Medicine in August 2013, the SERAPHIN study showed the risk of the first occurrence of a morbidity or mortality event, the primary endpoint of the study, was reduced by 45% (p<0.0001) with macitentan 10 mg compared to placebo. This effect was observed irrespective of whether or not patients were already treated with other therapies for PAH. SERAPHIN also showed a risk reduction in PAH related hospitalization and death of 50% (p<0.0001) compared to placebo. [1].

Pulmonary arterial hypertension (PAH) is a chronic, life-threatening disorder characterized by abnormally high blood pressure in the arteries between the heart and lungs of an affected individual. The symptoms of PAH are non-specific and can range from mild breathlessness and fatigue during normal daily activity to symptoms of right heart failure and severe restrictions on exercise capacity and ultimately reduced life expectancy.

NOTES TO THE EDITOR
ABOUT OPSUMIT® (MACITENTAN)

Opsumit® (macitentan) is a novel dual endothelin receptor antagonist (ERA) that resulted from a tailored drug discovery process with the target of developing an ERA to address efficacy and safety [3].

ABOUT THE SERAPHIN STUDY
SERAPHIN (Study with an Endothelin Receptor Antagonist in Pulmonary arterial Hypertension to Improve cliNical outcome) was the largest and longest randomized, controlled study in PAH patients to include a clearly defined morbidity/mortality primary endpoint [2]. The pivotal Phase III study was designed to evaluate the efficacy and safety of Opsumit®(macitentan) – a novel dual endothelin receptor antagonist that resulted from a tailored drug discovery process – through the primary endpoint of time to first morbidity and all-cause mortality event in patients with symptomatic PAH.

Global enrollment was completed in December 2009 with a total of 742 patients. Patients were randomized 1:1:1 to receive two different doses of macitentan (3 mg and 10 mg once daily) or placebo. Patients were allowed to receive PAH background therapy throughout the study, either PDE-5 inhibitors or oral/inhaled prostanoids. This event-driven study was conducted in 151 centers from almost 40 countries in North America, Latin America, Europe, Asia-Pacific and Africa and was completed in the first half of 2012, with 287 patients having an adjudicated event.

Dr. McLaughlin is a consultant to Actelion and was an investigator in the SERAPHIN trial.

ABOUT SERAPHIN STUDY DATA
Patients were randomized to placebo (n=250), macitentan 3 mg (n=250), or macitentan 10 mg (n=242). The primary end point occurred in 46.4%, 38.0%, and 31.4% of the patients in these groups, respectively. The hazard ratio for macitentan 3 mg versus placebo was 0.70 (97.5% CI, 0.52 to 0.96; p=0.0108) and the hazard ratio for macitentan 10 mg versus placebo was 0.55 (97.5% CI, 0.39 to 0.76; p<0.0001). Worsening of pulmonary arterial hypertension was the most frequent primary end point event. The effect of macitentan on this end point was observed irrespective of background therapy for pulmonary arterial hypertension. [1]

ABOUT THE SAFETY AND TOLERABILITY PROFILE
Opsumit is contraindicated in pregnancy because it may harm the developing fetus. Females of reproductive potential should be counselled on the use of reliable contraception and have a negative pregnancy test prior to initiating therapy and monthly thereafter.

Other ERAs have been associated with elevations of aminotransferases, hepatotoxicity, and liver failure. Liver enzyme tests should be obtained prior to initiation of Opsumit® and repeated during treatment as clinically indicated. If clinically relevant aminotransferase elevations occur, or if elevations are accompanied by clinical symptoms of hepatoxicity, discontinue Opsumit®.

Decreases in hemoglobin concentration and hematocrit occurred following administration of other ERAs and were observed in clinical studies with OPSUMIT. The decreases occurred early and stabilized thereafter. Decreases in hemoglobin seldom require transfusion. Initiation of Opsumit® is not recommended in patients with severe anemia. Hemoglobin should be measured prior to initiation of treatment and repeat during treatment as clinically indicated.

Should signs of pulmonary edema occur, consider the possibility of associated PVOD. If confirmed, discontinue Opsumit®.

Other ERAs have been associated with adverse effects on spermatogenesis. Men should be counseled about potential effects on fertility.

The use of Opsumit® with strong CYP3A4 inducers or inhibitors should be avoided.

The most common adverse reactions (more frequent than placebo by 3% or more) observed in patients treated with Opsumit were anemia, nasopharyngitis/pharyngitis, bronchitis, headache, influenza, and urinary tract infection.

ABOUT OPSUMIT® (MACITENTAN) SUBMISSIONS TO HEALTHCARE AUTHORITIES

Approval of the new drug application for Opsumit® (macitentan) was issued by the US Food and Drug Administration (FDA) on 18October 2013 for the treatment of pulmonary arterial hypertension (PAH, WHO Group I) to delay disease progression. Disease progression included: death, initiation of intravenous (IV) or subcutaneous prostanoids, or clinical worsening of PAH (decreased 6-minute walk distance, worsened PAH symptoms and need for additional PAH treatment). The need for PAH hospitalization was also reduced.

Regulatory reviews are ongoing in Europe, Canada, Switzerland, Australia, Taiwan, Korea and Mexico.

ABOUT PULMONARY ARTERIAL HYPERTENSION [9, 10]

PAH is one group within the classification of pulmonary hypertension (PH). This group includes idiopathic PAH, heritable PAH and PAH caused by factors which include connective tissue disease, HIV infection and congenital heart disease.

The last decade has seen significant advances in the understanding of the pathophysiology of PAH, which has been paralleled with developments of treatment guidelines and new therapies. Drugs targeting the three pathways that have been established in the pathogenesis of PAH are endothelin receptor antagonists (ERAs), prostacyclins and phosphodiesterase-5 inhibitors. PAH treatments have transformed the prognosis for PAH patients from symptomatic improvements in exercise tolerance 10 years ago to delayed disease progression today. Improved disease awareness and evidence-based guidelines developed from randomized controlled clinical trial data have highlighted the need for early intervention, goal-oriented treatment and combination therapy.

In PAH, survival rates are unacceptably low and PAH remains incurable.

References

Pulido T et al. Macitentan and Morbidity and Mortality in Pulmonary Arterial Hypertension. N Engl J Med 2013;369:809-18.
Proceedings of the 4th world symposium on pulmonary hypertension. J Am CollCardiol 2009;54(1 Suppl).
Bolli MH et al. The Discovery of N-[5-(4-Bromophenyl)-6-[2-[(5-bromo-2-pyrimidinyl)oxy]ethoxy]-4-pyrimidinyl]-N’-propylsulfamide (Macitentan), an Orally Active, Potent Dual Endothelin Receptor Antagonist. J Med Chem. 2012; 55:7849-61.
Gatfield J, Mueller Grandjean C, Sasse T, Clozel M, Nayler O (2012). Slow Receptor Dissociation Kinetics Differentiate Macitentan from Other Endothelin Receptor Antagonists in Pulmonary Arterial Smooth Muscle Cells. PLOS ONE 7(10): e47662. doi:10.1371/journal.pone.0047662
Iglarz M et al. Pharmacology of macitentan, an orally active tissue-targeting dual endothelin receptor antagonist. J PharmacolExpTher. 2008;327(3):736-45.
Sidharta PN et al. Macitentan: Entry-into-humans study with a new endothelin receptor antagonist. Eur J ClinPharmacol. 2011;67(10):977-84
Bruderer S et al. Absorption, distribution, metabolism, and excretion of macitentan, a dual endothelin receptor antagonist, in humans. Xenobiotica. 2012 Sep;42(9):901-10
Bruderer S et al. Effect of cyclosporine A and rifampin on the pharmacokinetics of macitentan, a tissue-targeting dual endothelin receptor antagonist. AAPS J. 2012;14(1):68-78.
Galiè N, Hoeper MM, Humbert M, et al; ESC Committee for Practice Guidelines (CPG). Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT). Eur Heart J 2009;30:2493-537
Benza RL, Miller DP, Barst RJ, Badesch DB, Frost AE, McGoon MD. An evaluation of long-term survival from time of diagnosis in pulmonary arterial hypertension from REVEAL. Chest 2012;142:448-56.

Actelion Ltd
Actelion Ltd is a biopharmaceutical company with its corporate headquarters in Allschwil/Basel, Switzerland. Actelion’s first drug Tracleer® (bosentan), an orally available dual endothelin receptor antagonist, has been approved as a therapy for pulmonary arterial hypertension. Actelion markets Tracleer through its own subsidiaries in key markets worldwide, including the United States (based in South San Francisco), the European Union, Japan, Canada, Australia and Switzerland. Actelion, founded in late 1997, is a leading player in innovative science related to the endothelium – the single layer of cells separating every blood vessel from the blood stream. Actelion’s over 2,300 employees focus on the discovery, development and marketing of innovative drugs for significant unmet medical needs. Actelion shares are traded on the SIX Swiss Exchange (ticker symbol: ATLN) as part of the Swiss blue-chip index SMI (Swiss Market Index SMI®).

For further information please contact:
Roland Haefeli
Senior Vice President, Head of Investor Relations & Public Affairs
Actelion Pharmaceuticals Ltd, Gewerbestrasse 16, CH-4123 Allschwil
+41 61 565 62 62
+1 650 624 69 36
www.actelion.com

The above information contains certain “forward-looking statements”, relating to the company’s business, which can be identified by the use of forward-looking terminology such as “estimates”, “believes”, “expects”, “may”, “are expected to”, “will”, “will continue”, “should”, “would be”, “seeks”, “pending” or “anticipates” or similar expressions, or by discussions of strategy, plans or intentions. Such statements include descriptions of the company’s investment and research and development programs and anticipated expenditures in connection therewith, descriptions of new products expected to be introduced by the company and anticipated customer demand for such products and products in the company’s existing portfolio. Such statements reflect the current views of the company with respect to future events and are subject to certain risks, uncertainties and assumptions. Many factors could cause the actual results, performance or achievements of the company to be materially different from any future results, performances or achievements that may be expressed or implied by such forward-looking statements. Should one or more of these risks or uncertainties materialize, or should underlying assumptions prove incorrect, actual results may vary materially from those described herein as anticipated, believed, estimated or expected.

Adempas

News Release Intended for U.S. Media Only

FDA Approves Bayer’s New Class of Drug Adempas® (riociguat) tablets to Treat Adults with PAH and Persistent, Recurrent or Inoperable CTEPH First and only drug approved in U.S. to Treat Two Forms of Pulmonary Hypertension (WHO Group 1 and 4)

Whippany, N.J., October 8, 2013 – Bayer HealthCare announced today that the United States Food and Drug Administration (FDA) has approved Adempas® (riociguat) tablets for: (i) the treatment of adults with persistent/recurrent chronic thromboembolic pulmonary hypertension (CTEPH) (WHO* Group 4) after surgical treatment or inoperable CTEPH to improve exercise capacity and WHO functional class; and (ii) the treatment of adults with pulmonary arterial hypertension (PAH) (WHO Group 1) to improve exercise capacity, improve WHO functional class and delay clinical worsening. In PAH, efficacy was shown in patients on Adempas monotherapy or in combination with endothelin receptor antagonists (ERAs) or prostanoids (inhaled, oral or subcutaneous). Studies establishing effectiveness included predominately patients with WHO functional class II-III and etiologies of idiopathic or heritable PAH (61%) or PAH associated with connective tissue diseases (25%). Adempas is the only treatment approved in the U.S. for use in two types of pulmonary hypertension (WHO Group 1 and 4). It is the first and only FDA-approved drug therapy for persistent/recurrent CTEPH after surgical treatment or inoperable CTEPH. It is also the only approved oral therapy in PAH with efficacy shown in monotherapy or in combination with ERAs or prostanoids. For all female patients, Adempas is available only through a restricted program called the Adempas Risk Evaluation and Mitigation Strategy (REMS) Program.

1 World Health Organization

“CTEPH and PAH are serious and life-threatening diseases,” said Nick H. Kim, Associate Clinical Professor of Medicine, Division of Pulmonary and Critical Care Medicine; Director, Pulmonary Vascular Medicine; Director, Fellowship Program; University of California San Diego. “The approval of Adempas equips physicians with a new approach to treating PAH patients, and it gives us the first approved drug treatment for patients with inoperable CTEPH or with persistent/recurrent CTEPH after surgery. While surgery should always be considered as the first treatment option for CTEPH, the fact remains that up to forty percent of CTEPH patients are not eligible for surgery, and ten to thirty-five percent of CTEPH patients have disease that persists after surgery.” PAH is a disease characterized by elevated pressure in the pulmonary arteries. CTEPH is a form of pulmonary hypertension in which blood clots and thromboembolic occlusion of the pulmonary vessels leads to increased pressure in the pulmonary arteries. The standard treatment for CTEPH is pulmonary endarterectomy, a potentially curative surgery that clears clots and scar material from the blood vessels of the lung. “Bayer is deeply committed to bringing new treatment options to patients with life-threatening diseases. Adempas is an excellent example of this commitment, because it is the result of years of dedicated research in our Bayer laboratories into a new way of treating two forms of pulmonary hypertension,” said Pamela A. Cyrus, MD, Vice President and Head, U.S. Medical, Bayer HealthCare Pharmaceuticals. “We are pleased to bring this new class of treatment to patients with PAH or with inoperable CTEPH or persistent/recurrent CTEPH after surgical treatment.” Rino Aldrighetti, President and CEO, Pulmonary Hypertension Association added, “From a patient’s perspective, living with pulmonary hypertension remains difficult. We know that not all treatments work for all people. We get excited when there is a new treatment option for PAH patients, and we are thrilled there is finally an approved drug treatment for people living with persistent/recurrent CTEPH after surgical treatment or inoperable CTEPH.” Adempas, a stimulator of soluable guanylate cyclase (sGC), represents a new class of drug now available in the U.S. Pulmonary hypertension is associated with endothelial dysfunction, impaired synthesis of nitric oxide (NO) and insufficient stimulation of the NO-sGC-cGMP pathway. Adempas sensitizes sGC to endogenous NO by stabilizing the NO-sGC binding. Adempas also directly stimulates sGC via a different binding site independently of NO. Adempas restores the NO-sGC-cGMP pathway and leads to increased generation of cGMP with subsequent vasodialation. The most common adverse reactions occurring more frequently (>3%) on Adempas than placebo were headache (27% vs 18%), dyspepsia/gastritis (21% vs. 8%), dizziness (20% vs 13%), nausea (14% vs 11%), diarrhea (12% vs 8%), hypotension (10% vs 4%), vomiting (10% vs 7%), anemia (7% vs 2%), gastroesophageal reflux disease (5% vs 2%), and constipation (5% vs 1%). Other events that were seen more frequently in Adempas compared to placebo and potentially related to treatment were: palpitations, nasal congestion, epistaxis, dysphagia, abdominal distension and peripheral edema. About Patient Assistance Program Bayer offers patient assistance through the Adempas Aim Support Center program, which will assist with obtaining coverage and patient support of Adempas. Patients and providers may contact the program at 1-855-4ADEMPAS for additional information. IMPORTANT SAFETY INFORMATION

WARNING: EMBRYO-FETAL TOXICITY Do not administer Adempas (riociguat) tablets to a pregnant female because it may cause fetal harm.

Females of reproductive potential: Exclude pregnancy before the start of treatment, monthly during treatment, and 1 month after stopping treatment. Prevent pregnancy during treatment and for one month after stopping treatment by using acceptable methods of contraception.

For all female patients, Adempas is available only through a restricted program called the Adempas Risk Evaluation and Mitigation Strategy (REMS) Program.

Contraindications. Adempas is contraindicated in:

Pregnancy. Adempas may cause fetal harm when administered to a pregnant woman. Adempas was consistently shown to have teratogenic effects when administered to animals. If this drug is used during pregnancy, or if the patient becomes pregnant while taking this drug, the patient should be apprised of the potential hazard to the fetus
Co-administration with nitrates or nitric oxide donors (such as amyl nitrite) in any form.
Concomitant administration with phosphodiesterase (PDE) inhibitors, including specific PDE-5 inhibitors (such as sildenafil, tadalafil, or vardenafil) or nonspecific PDE inhibitors (such as dipyridamole or theophylline).

Warnings and Precautions Embryo-Fetal Toxicity. Adempas may cause fetal harm when administered during pregnancy and is contraindicated for use in women who are pregnant. In females of reproductive potential, exclude pregnancy prior to initiation of therapy, advise use of acceptable contraception and obtain monthly pregnancy tests. For females, Adempas is only available through a restricted program under the Adempas REMS Program. Adempas REMS Program. Females can only receive Adempas through the Adempas REMS Program, a restricted distribution program. Important requirements of the Adempas REMS program include the following:

Prescribers must be certified with the program by enrolling and completing training.
All females, regardless of reproductive potential, must enroll in the Adempas REMS Program prior to initiating Adempas. Male patients are not enrolled in the Adempas REMS Program.
Female patients of reproductive potential must comply with the pregnancy testing and contraception requirements.
Pharmacies must be certified with the program and must only dispense to patients who are authorized to receive Adempas.

Further information, including a list of certified pharmacies, is available at www.AdempasREMS.com or 1-855-4ADEMPAS. Hypotension. Adempas reduces blood pressure. Consider the potential for symptomatic hypotension or ischemia in patients with hypovolemia, severe left ventricular outflow obstruction, resting hypotension, autonomic dysfunction, or concomitant treatment with antihypertensives or strong CYP and P-gp/BCRP inhibitors. Consider a dose reduction if patient develops signs or symptoms of hypotension. Bleeding. In the placebo-controlled clinical trials program, serious bleeding occurred in 2.4% of patients taking Adempas compared to 0% of placebo patients. Serious hemoptysis occurred in 5 (1%) patients taking Adempas compared to 0 placebo patients, including one event with fatal outcome. Serious hemorrhagic events also included 2 patients with vaginal hemorrhage, 2 with catheter site hemorrhage, and 1 each with subdural hematoma, hematemesis, and intra-abdominal hemorrhage. Pulmonary Veno-Occlusive Disease. Pulmonary vasodilators may significantly worsen the cardiovascular status of patients with pulmonary veno-occlusive disease (PVOD). Therefore, administration of Adempas to such patients is not recommended. Should signs of pulmonary edema occur, the possibility of associated PVOD should be considered and if confirmed, discontinue treatment with Adempas. Most Common Adverse Reactions The most common adverse reactions occurring more frequently (>3%) on Adempas than placebo were headache (27% vs 18%), dyspepsia/gastritis (21% vs. 8%), dizziness (20% vs 13%), nausea (14% vs 11%), diarrhea (12% vs 8%), hypotension (10% vs 4%), vomiting (10% vs 7%), anemia (7% vs 2%), gastroesophageal reflux disease (5% vs 2%), and constipation (5% vs 1%). Other events that were seen more frequently in Adempas compared to placebo and potentially related to treatment were: palpitations, nasal congestion, epistaxis, dysphagia, abdominal distension and peripheral edema. For important risk and use information, please see the full Prescribing Information, including Boxed Warning, at www.adempas-us.com. About Bayer HealthCare Pharmaceuticals Inc. Bayer HealthCare Pharmaceuticals Inc. is the U.S.-based pharmaceuticals business of Bayer HealthCare LLC, a subsidiary of Bayer AG. Bayer HealthCare is one of the world’s leading, innovative companies in the healthcare and medical products industry, and combines the activities of the Animal Health, Consumer Care, Medical Care, and Pharmaceuticals divisions. As a specialty pharmaceutical company, Bayer HealthCare provides products for General Medicine, Hematology, Neurology, Oncology and Women’s Healthcare. The company’s aim is to discover and manufacture products that will improve human health worldwide by diagnosing, preventing and treating diseases. Bayer® and the Bayer Cross® are registered trademarks of Bayer. Intended for U.S. media only U.S. Media Contact: Marcy Funk, Communications, Bayer HealthCare Telephone: (862) 404-5385 E-Mail: [email protected] Forward-Looking Statements This release may contain forward-looking statements based on current assumptions and forecasts made by Bayer Group or subgroup management. Various known and unknown risks, uncertainties and other factors could lead to material differences between the actual future results, financial situation, development or performance of the company and the estimates given here. These factors include those discussed in Bayer’s public reports which are available on the Bayer website at www.bayer.com. The company assumes no liability whatsoever to update these forward-looking statements or to conform them to future events or developments.

Adempas

News Release Intended for U.S. Media Only

FDA ADVISORY COMMITTEE UNANIMOUSLY RECOMMENDS APPROVAL OF BAYER’S RIOCIGUAT IN TWO PULMONARY HYPERTENSION INDICATIONS

If approved by the FDA, riociguat will be the first treatment for inoperable CTEPH or persistent/recurrent CTEPH after surgery and a new treatment for PAH

Whippany, N.J., August 6, 2013– Bayer HealthCare today announced that the U.S. Food and Drug Administration’s (FDA) Cardiovascular and Renal Drugs Advisory Committee recommended approval for investigational riociguat, proposed trade name Adempas™, in two forms of pulmonary hypertension. The Committee voted 11 to 0 that riociguat should be approved for the treatment of pulmonary arterial hypertension [PAH] of WHO1 Group 1. The Committee also voted 11 to 0 that riociguat should be approved for the treatment of chronic thromboembolic pulmonary hypertension (CTEPH) of WHO Group 4. In February 2013, Bayer submitted a new drug application for riociguat in two indications: (i) the treatment of PAH (WHO Group 1) to improve exercise capacity, improve WHO functional class and delay clinical worsening; and (ii) the treatment of persistent/recurrent CTEPH (WHO Group 4) after surgical treatment or inoperable CTEPH to improve exercise capacity and WHO functional class. “We appreciate the Committtee’s discussion today around the safe and appropriate use of riociguat and are pleased with the outcome of the votes,” said Pamela A. Cyrus, MD, Vice President and Head of U.S. Medical Affairs, Bayer HealthCare Pharmaceuticals. “If approved, riociguat will offer a new treatment option for patients with PAH and will also provide the first approved non-surgical treatment option for CTEPH patients who are inoperable or who have recurrent or persistent disease. We look forward to continued dialogue with the FDA in order to make riociguat available to patients.”

1 World Health Organization

PAH and CTEPH are both life-threatening forms of pulmonary hypertension that cause significantly increased pressure in the pulmonary arteries. Riociguat is an investigational, oral medication for the treatment of adult patients with PAH or inoperable or persistent/recurrent CTEPH. If approved by the FDA later this year, it would create a new class of therapy available in the U.S. PH is associated with endothelial dysfunction, impaired synthesis of nitric oxide (NO) and insufficient stimulation of soluble guanylate cyclase (sGC). Riociguat stimulates sGC independent of NO and increases the sensitivity of sGC to NO. Data presented at today’s advisory committee meeting included results from the global Phase 3 clinical program, which enrolled 704 patients across two Phase 3 studies. Both studies met their primary endpoint by demonstrating a statistically significant improvement in the six-minute walk test (6MWT), after 16 and 12 weeks respectively. Riociguat was also associated with improvements across multiple, relevant, secondary endpoints in the studies. The most common treatment-emergent adverse events with riociguat were headache, dizziness, dsypesia, peripheral edema, nausea, diarrhea and vomiting. The advisory committee’s vote will be taken into consideration by the FDA when making its decision on the approvability of Bayer’s NDA for riociguat, which was submitted in February 2013. After acceptance of the NDA, the FDA granted riociguat priority review designation, which is given to drugs that have the potential to offer significant improvement in treatment or provide a treatment option where no adequate therapy exists. About Pulmonary Arterial Hypertension (PAH) In PAH, a rare and life-threatening disease, the blood pressure in the pulmonary arteries (the arteries that take de-oxygenated blood to the lungs from the heart) is significantly increased. PAH is characterized by morphological changes to the endothelium of the arteries of the lungs causing remodeling of the tissue, vasoconstriction and thrombosis-in-situ. As a result of these changes, the blood vessels in the lungs are narrowed, making it difficult for the heart to pump blood through to the lungs. In most cases, PAH has no known cause and, in some cases, it can be inherited. About Chronic Thromboembolic Pulmonary Hypertension (CTEPH) CTEPH is also a rare and life-threatening disease in which it is believed that thromboembolic occlusion (organized blood clots) of pulmonary vessels gradually lead to an increased pressure in the pulmonary arteries, resulting in an overload of the right heart. CTEPH may evolve after prior episodes of acute pulmonary embolism, but the pathogenesis is not yet completely understood. The standard treatment for CTEPH is pulmonary endarterectomy (PEA), a surgical procedure in which the blood vessels of the lungs are cleared of clot and scar material. However, CTEPH is inoperable in an estimated 20 to 40 percent of patients, and, in some cases, the disease persists or reoccurs after surgery. About Bayer HealthCare Pharmaceuticals Inc.Bayer HealthCare Pharmaceuticals Inc. is the U.S.-based pharmaceuticals business of Bayer HealthCare LLC, a subsidiary of Bayer AG. Bayer HealthCare is one of the world’s leading, innovative companies in the healthcare and medical products industry, and combines the activities of the Animal Health, Consumer Care, Medical Care, and Pharmaceuticals divisions. As a specialty pharmaceutical company, Bayer HealthCare provides products for General Medicine, Hematology, Neurology, Oncology and Women’s Healthcare. The company’s aim is to discover and manufacture products that will improve human health worldwide by diagnosing, preventing and treating diseases. Bayer® and the Bayer Cross® are registered trademarks of Bayer.

Intended for U.S. media only Media Contact: Marcy Funk, Communications, Bayer HealthCare Telephone: (862) 404-5385 E-Mail: [email protected]

Forward-Looking Statements This release may contain forward-looking statements based on current assumptions and forecasts made by Bayer Group or subgroup management. Various known and unknown risks, uncertainties and other factors could lead to material differences between the actual future results, financial situation, development or performance of the company and the estimates given here. These factors include those discussed in Bayer’s public reports which are available on the Bayer website at www.bayer.com. The company assumes no liability whatsoever to update these forward-looking statements or to conform them to future events or developments.

Posted in About Us, Diseases, Featured | Tagged Adempas, Amy Magro, anti fibrotic agent, antiepileptic, ASCEND Phase 3 trial, Bayer, Bayer HealthCare, blood clots, child treatment, chronic, clinical, clinical trial, complex partial seizure, complex partial seizures, connective tissue diseases, CPS, CTEPH, cytokine, disease, drug, drugs, dyspepsia, endothelial dysfunction, endothelin receptor antagonists, Epilepsy, Epilepsy Foundation, ERA, FDA, fibrosis, Food and Drug Administration, gastritis, Healthcare, idiopathic pulmonary fibrosis, inter mune, intermune, ipf, jonathan leff, Lundbeck, lung disease, macitentan, Marcy Funk, Matt Flesch, monotherapy, News release, opsumit, orphan fibrotic disease, partial seizure, partial seizures, Patient Assistance Program, pff, PH, PHA, Pharmaceutical, Philip Gattone, pirfenidone, prostanoids, pulmonary endarterectomy, Pulmonary Fibrosis, pulmonary fibrosis foundation, Pulmonary Hypertension, Pulmonary Hypertension Association, Pulmonary Veno-Occlusive Disease, rare, refractory, refractory CPS, REMS, Rino Aldrighetti, riociguat, Risk Evaluation and Mitigation Strategy Program, Sabril, seizure, seizures, sgc, SHARE, SHARE program, soluable guanylate cyclase, thromboembolic occlusion, thromboembolic pulmonary hypertension, treating children, treatment, University of California San Diego, vigabatrin, vision loss, World Health Organization | Leave a comment

Learning to Live with Pulmonary Hypertension

Posted on August 3, 2014 by Charlie

48-year-old Mari Jackson had worked since the age of 12. But last year, a diagnosis of pulmonary arterial hypertension forced her to slow down and approach life differently.

Mari Jackson and her husband, William. Photo by Anthony Nesossis

I got diagnosed with pulmonary hypertension last March. The symptoms started in February of last year, right around my husband’s birthday. It was like something out of the blue.

We had gone to dinner to celebrate his birthday and came home, and I said, “I’m going to get ready for work.”

I went upstairs to take a shower, and when I got off the bed to walk towards the bathroom, I just blacked out. When I woke up, I was on the floor, and I was face down by the sink.

I called my husband, and he and my son came running up the stairs, and my husband said, “What are you doing on the floor?”

I said, “I have no idea. I just blacked out.” My body had just shut down. I was so embarrassed.

But I didn’t pay it any attention. I worked for a mortgage company. Believe it or not, Monday through Friday, I drove every day to work—44 miles round trip. I worked anywhere from 10 to 12 hours a day, and I worked weekends and overtime.

I had an episode every weekend. I would pass out. I actually had a seizure one night. My husband noticed that every time I would go upstairs, I would get really, really light-headed and either fall backwards or lose my balance.

So, one night he came upstairs with me and said, “Let me just help you into the room.” I was using the bathroom, and I was sliding off the seat. I had a seizure, and he was right there to catch me, and I bit my tongue, and it was so weird because I had never had that happen.

He took me to the ER, and they ran a lot of tests. They said, “We don’t see anything, but we do see that you have pneumonia.” So, they gave me antibiotics for that, and I went home.

The first Saturday in March, I went to work. I got upset about something, and the whole left side of my arm turned ice cold. It was numb, and I kept shaking it. Then, I started sweating.

I told my manager, “I’m going home. I’m not going to be able to stay.” My manager said, “You don’t look well,” and he called my husband.

My husband came and got me and took me to the emergency room. My blood pressure was 280 over 190. They said, “You’re not going anywhere, so get comfortable.” I ended up having to be admitted. They ran some more tests, and I stayed there for a week.

They did a lung biopsy, and then a right heart catheter. They did a crash blood pressure drop on me, and they would give me blood pressure medication three times a day. I felt like somebody was coming in and beating me.

I said, “Why do I feel this way?” They said, “We have to get your blood pressure down.” I had no idea, because my pressure was always high.

Once I got all the test results back, I met with my pulmonologist. He told me I had pulmonary arterial hypertension, that basically, my heart and lungs are not friends right now. I had no idea that my life was going to change.

I was devastated. I wanted to go back to work. And I couldn’t. I couldn’t even go up the stairs in my house. I either stayed upstairs or downstairs. To walk from my kitchen to my bathroom, I was gassed out. If I got up too fast, I fell out. If I dropped my head too long to tie my shoe, I passed out.

I couldn’t understand it. I got mad. I questioned myself. I questioned God, and I know that wasn’t the right thing to do, but I didn’t know what else to do. I wanted answers. I prayed for understanding.

Then I just started learning. I got on the websites and started learning about PH. There were things I had to do differently. I was confined to my room for six weeks because I couldn’t go up and down the stairs. I had to sit on the stairs and go up backwards. I was a very independent person. Then to have to rely on someone to cook me breakfast, to get me water, I thought, ‘This is unreal.’

I had to reform my thinking. My doctor told me I had to lose weight. And I thought, ‘Well, how is that going to happen if I can’t exercise?’

So I had to learn how to cut back on carbs, sodium, and to fall in love with water. I was 325 pounds, and now I’m 260, and I feel much better than I did a year ago. My doctor actually told me last week, “Compared to how you were last year, you would have never known.”

It just happened. I have had asthma since I was a little girl, but I only had one flare up as an adult. PAH hides behind asthma, and then it explodes all of the sudden. People with asthma have to be very careful and have things checked out extensively. There were no gradual signs.

Every time I would go to the doctor, my blood pressure would be high, and they would ask, “Do you have high blood pressure in your family?” And I would say, “Yes.” And they would ask, “Well, how do you feel?” And I would say, “I feel fine.”

But passing out and having seizures, never had I experienced that before. I was going through my own thing.

I didn’t really want to talk to people, because I couldn’t talk. I was gassing out. The longer I talked, the worse it got. You could hear I was struggling to talk. Last year, I was in a wheelchair.

I was scared, because you read things on the internet about your life expectancy. Then you read about all the new medications that have been FDA-approved. You’re hoping and praying that one of those will work for you.

This year is like a complete turnaround. I have a lot to be thankful for. I’m able to walk distances at my own pace. I still use a wheelchair in big places. I don’t do the mall. I get anxiety around a lot of people, because I feel like, if something happens, I’m not going to be able to get out. I try not to go to a lot of places by myself, and if I go somewhere by myself, I let someone know where I am. I have a Life Alert.

When I walk, I do so at my own pace. If I get tired, I stop. I do all right. [Recently] I went to the doctor by myself. I walked in on my own. But I took my time.

I can’t work anymore—that was the biggest thing. My husband’s work is seasonal. Financially it’s very hard. So, I communicate a lot with other PAH patients. I’m on the website with them. I try to get other ideas from people about what they’re doing.

If I could do volunteer work, that would be good. It’s difficult, because I like working with people with disabilities. But I have to be real cautious about my surroundings. If I catch something, I can’t take anything over the counter.

I have two grown children; they’re 20 and 27. My husband has five. I have four grandchildren who live in Washington, D.C. Last year I couldn’t travel because I was sick. Maybe this year, if the weather and my health permit, we’ll take a little road trip to see them. My parents live in Seattle, but I can’t really visit them because of the altitude of a flight.

My youngest son was here for a year, and he was very helpful, but at the same time, he was a teenager, and I didn’t want him to be stuck in the house with me all summer. He ended up going back to California.

I’ve been working ever since I was 12. I don’t know what a hobby is. After I had kids, I went right back into the workplace.

I have a friend, and we’ll get together and have lunch once a month, and it’s nice. I do like to read. I like romance novels. I really got into talking with other people with PAH in my area. I want to look into a chapter here in Charlotte. Maybe I could do something with them.

My husband was and still is a very big part of my healing process. He always makes sure that my needs are taken care of, no matter what, even cooking dinner after working an eight-hour day. I really do appreciate my husband, and I thank God for him.

To the newly diagnosed, I would say, “It’s going to work out. Don’t get upset, because being upset starts a lot of things, like stress.” I still do that, but I really try not to.

Sometimes I think, ‘What if this gets turned off? What if I lose my house?’ I realized when I was doing that, it was making me worse.

I went through a point where I didn’t want to be bothered with anybody. I was mad. I thought, ‘Why can’t I work?’ I thought my life was done.

Now, I just take everything one day at a time. I don’t let anything bother me. I keep it moving. I want to be able to grab, absorb and use everything you give me to the best of my abilities.

I still call myself a newbie. To the newly diagnosed I would say, “Life still goes on. It’s just that you have to take it slow. It’s about you. Nobody else. That’s how it is.”

Posted in Diseases, Featured, Uncategorized | Tagged Asthma, crash blood pressure drop, disease, heart, high blood pressure, light headed, lung, lung biopsy, mari jackson, pah, PH, pneumonia, pulmonary arterial hypertension, Pulmonary Hypertension, right heart catheter, seizure | 8 Comments

In Your Words: Carrie Beth and Asher

Posted on May 28, 2014 by Charlie

Carrie Beth Pretto’s son Asher’s infantile spasms (IS) were diagnosed two years ago. A year after brain surgery, multiple medications and doctors’ visits, he is now seizure-free. Pretto describes the challenges they’ve overcome, and still face, and offers advice on finding support, treatment, and resources for IS.

Asher was diagnosed with infantile spasms on November 11, 2011. He was six months old.

A week prior to his diagnosis, Asher began having unusual eye patterns and jerking body movements. He would lean forward and then throw his head back and arms out wide.

As we began to notice this wasn’t just a one-time occurrence, we became concerned. Over a week’s time, the jerking motions and eye rolling developed into clusters, occurring more often throughout the day.

I made a call to our pediatrician, who immediately ordered us to have an EEG performed. While there, I overheard nurses comment, “This is classic IS,” not knowing the least bit about what they were referring to.

Within hours, we were sent to a local pediatric neurologist. I can still see the look on the doctor’s face when she walked into the room. It was not your usual first greeting from your doctor. Her face was filled with sadness and disappointment.

After examining Asher and reviewing the EEG, she diagnosed him with infantile spasms. The doctor stressed the need for starting treatment immediately to prevent prolonged damage to Asher’s brain and the associated developmental delays.

Although we knew nothing about IS, we could sense this was a serious matter and obediently agreed to any recommended treatment. The first step was to stop the spasms, and then continue trying to diagnose the cause of the spasms via MRI and other methods.

We were told the best case was that nothing abnormal would be found, and in that case, he’d likely grow out of the IS. The neurologist kept commenting that she hoped it wasn’t tuberous sclerosis complex (TSC). Again, something we had never heard of before.

The doctor prescribed a very expensive medication that was made-to-order out of Chicago and wouldn’t be released to us until a nonprofit organization agreed to assist with the co-pay. Within three days, we received the medication and began administering it via injections twice a day for 60 days. A nurse administered the first injection, but I was left to provide the injections from then on in his poor little thighs.

Again, step two was to determine what was causing the IS, so throughout his period of treatments, Asher underwent numerous tests such as MRI, ultrasounds, cardiology exams, blood work—it seemed endless. During this time, our poor son ballooned from the steroids, going from 15 to 20 pounds in only seven weeks.

The medication stopped the IS within three days of the first injection, but while weaning him off the treatment in the final weeks, we observed a different type of seizure develop, one in which he lost emotion while looking up and away. The neurologist prescribed new medications in various combinations and doses to stop the seizures, each unsuccessful.

Approximately two months after Asher was first diagnosed with IS, the neurologist delivered a diagnosis of tuberous sclerosis complex, based on the findings on the MRI. Tuberous sclerosis complex (TSC) is a genetic disorder in which the DNA lacks either one or both of the genes that suppress tumor growth in many of the major organs.

Currently Asher is only showing the TS characteristics of tumor growth on his skin and brain, which account for his uncontrolled epilepsy and developmental delay.

From this point, we were referred to the TSC clinic at UT Medical Center in Houston, Texas, for further treatment. There, we met with multiple neurologists and a geneticist, who prescribed another round of medications to control the seizures.

Finally, on November 5, 2012, Asher underwent an occipital resection on the left hemisphere of his brain to remove the largest tuber, [occupying] roughly 10 percent of his brain, that was causing his epilepsy.

With our weekly schedule of occupational, speech, physical and autism therapy, Asher is thriving, despite the setbacks that we have faced over the past two years.

After two years of multiple medications and doctors’ visits, Asher has now been seizure-free since his brain surgery just over a year ago. It is such a blessing that we can now say our little guy, at the age of two and a half, is actively catching up and accomplishing new milestones everyday.

Asher is a busy little guy. When not at therapy, some of the things he enjoys are swinging, going for wagon rides, running outside, doing puzzles, listening to sing-a-long songs, anything to do with shapes, playing peek-a-boo, coloring, jumping on the bed, and airplane on daddy’s feet, and he loves tubby time (bath time).

Some of the biggest challenges have been his lack of and delays in ability to communicate and show emotions and expressions of love, public outings, such as shopping and restaurants, tending to another child while home, what kind of care to give him and how to get it, as well as therapy, treatment plans for long-term care, limited medical coverage for behavioral therapy, rareness of the disorder and limitations of knowledgeable staff close to home.

For the parents of those who are newly diagnosed, it’s important to educate yourself quickly through only credible resources—the internet can be very misleading—and to find a neurologist who is knowledgeable in diagnosing and treating IS. Technology is also very important—they must have the right and most up-to-date tools.

Be prepared to make difficult decisions, whether it is in regards to medications and their harmful side effects, or the onset of developmental delays. Nonprofit companies are available to help you when in need. Support groups are out there … you are not alone.

Posted in About Us, Diseases, Featured | Tagged Asher Pretto, brain surgery, cardiology, Carrie Beth Pretto, EEG, Infantile Spasms, mri, neurology, occipital resection, seizure, seizure free, seizures, steroids, tsc, tuberous sclerosis, ultrasounds | Leave a comment

We Can Be Heroes: Nicole Murray

Posted on April 28, 2014 by Charlie

Nicole Murray talks to Community about pairing her love of running with raising awareness and funding for her son Ronan’s infantile spasms (IS) and offers advice for parents of children who’ve been recently diagnosed with IS. Murray ran in the 2013 Philadelphia Marathon as an Epilepsy Foundation Athlete vs. Epilepsy.

Ronan, Jonathan, Nicole, and Declan Murray. (Photo by Sarah Kaupp)

Ronan was officially diagnosed in late April 2012, at four months old, via video EEG, though he was having clinical spasms in March. It took nearly five weeks for his clinical spasms to evolve to infantile spasms and hypsarrhythmia on the EEG.

The moment he started having them, I knew they were IS. I had read about IS when I joined an epilepsy parent support group and had seen videos of children having IS, so I knew. It’s very different than other seizure types; they don’t look all that terrible, but they are incredibly catastrophic.

I’ve always been a runner. It has always been a great stress reliever for me. I knew that I could pair my love of running with raising awareness for Ronan’s condition, and that’s why I chose to run for the Epilepsy Foundation.

Ronan is defying the odds and breaking the rules. At ten and a half months old, he was not sitting, not babbling, and not self-feeding. He was having anywhere from five to 50 seizures daily. Since the morning of October 23, he has not had one seizure!

He had surgery three months ago, and he’s sitting unassisted, babbling, self-feeding, plus, starting to really bear weight on his legs. His development has taken off, and he’s so happy and alert, despite still being on two seizure meds.

The surgery did leave him with deficits, some of which will be permanent. Some of which, we’ll hope to overcome with intensive therapy.

He does have significant weakness/unawareness on his right side, as his entire left-brain hemisphere is now disconnected/removed, but he’s showing steady progress with arm recovery. His leg has recovered very well. He will have a permanent visual field cut. The right visual field of both eyes will never return.

Right now, we are working hard with seven-plus therapy appointments per week, and celebrating in each and every inch and milestone he’s making.

I’m now back to work, and his therapy schedule (and our other son) keep us very, very busy. I try to get out [to run] at least three, ideally four times a week.

Running helps me feel strong, both physically and mentally. I also never take for granted that I have the physical abilities to run, as I’ve met many children now who cannot.

I don’t know [what marathons I’m running next]! I think I’ll probably be more inclined to sign up for a half marathon first. Training for a full marathon is a serious time commitment. Perhaps Philly again.

Regrettably, I have not been involved with the Epilepsy Foundation beyond raising money via the marathon. Eventually, I’ll become more involved, but right now, Ronan’s therapy and needs are intense. I am involved with several online support groups for infantile spasms and polymicrogyria, and the Hemispherectomy Foundation, among others.

You can follow Ronan’s journey and progress here: https://www.facebook.com/RonanRobertsFanClub

Posted in About Us, Diseases, Featured | Tagged athlete vs epilepsy, athletes vs epilepsy, brain surgery, Caring Voice Community, childhood illness, clinical spasms, Community magazine, EEG, Epilepsy, Epilepsy Foundation, hypsarrhythmia, Infantile Spasms, nicole murray, ronan murray, ronan roberts, ronan roberts fan club, seizure, seizures, spasms | Leave a comment

We Can Be Heroes: Michael Poole

Posted on April 21, 2014 by Charlie

Community spoke with 22-year-old New Zealand champion triathlete Michael Poole about his sport, his love of adventure, and his discipline in dealing with epilepsy.

My epilepsy was first diagnosed when I was 17 or 18 years old. I was in two situations where I had grand mal seizures about 13 weeks apart.

Michael Poole racing in the 2013 Rev3 Half Ironman in Branson, Missouri.

It was a difficult time, as my sport involves activities (swimming and cycling) that have risk attached, but I had good doctors and great advice that I’ve followed very closely. The medication I’m on appears to have worked well too.

Growing up in New Zealand, there is every opportunity to be active. I played a lot of soccer early, but also loved running races. At 13, I started cycling and then did a couple of triathlons and realized I had to learn to swim a lot better.

Through some great coaching and lots of hard work, by the time I had left high school in New Zealand, I had won national titles in triathlon, duathlon, multi-sport, cycling, cross-country running, and road running. I had also represented New Zealand internationally in both cycling and triathlon.

For those newly diagnosed, I think it’s important to get as much accurate information as you can from experts. Don’t panic. Follow advice really closely. Don’t put aside ambitions. Talk about things when you are ready.

Some of the most important things I’ve learned from being an athlete are that it’s really hard work on a daily basis, and you have to take things one day at a time. I’ve been able to travel to a range of countries—China, South Korea, Japan, New Caledonia, Australia, Costa Rica, and Barbados, and to 20 cities in the U.S.—you learn a lot about people and places.

Being disciplined around my risk factors is hard—sleep, diet, remembering to take meds. Being concerned about misunderstandings can be hard too. I have to declare my condition on race entries, but so far organizers have been really good and low-key. When we were first working through that, it was hard, as the restrictions placed on me the first six to 12 months after diagnosis were strict for driving, cycling, and swimming.

I’m a full-time chemical engineering student at the University of South Florida. I have high expectations and work very hard. To be a full-time student, full-time athlete living in a country I did not grow up in has real challenges.

I race often. On January 19, I raced in a world-class field in Auckland over a half-iron man distance. I then have more races in New Zealand and one in Australia before heading back to the U.S. in mid-February.

I will then look to race approximately 20 times across the U.S. during the year. It’s always challenging, as many world-class athletes come to the U.S. to race, but lots of learning and development are available. Financially things are also tough—I pay full international fees, plus away-from-home living costs. Triathlon is an expensive sport in many ways—getting sponsorship is tough—and the major results do not come until your mid to late twenties. So a week-by-week challenge is finding enough financial backing just to keep moving forward as a student and an athlete.

What is most rewarding about being a triathlete are the challenges of continuous improvement and the overcoming of all the strategic life problems that go with the sport. It is a very difficult sport.

I offered my profile to the Epilepsy Foundation to assist in any way they saw fit, and their Athletes vs. Epilepsy initiative fits really well. If I can in some way encourage people with epilepsy to be out and be active, it can only be a good thing. People are very welcome to contact me through: www.facebook.com/michaelpooleprofessionaltriathlete

Posted in About Us, Diseases, Featured | Tagged athlete, athletes vs epilepsy, cycling, diagnosed, Diagnosis, Epilepsy, Epilepsy Foundation, grand mal, Michael Poole, rev3 half ironman, seizure, seizures, sport, swimming, triathlete | Leave a comment

In Your Words: Adrienne Altamirano

Posted on March 12, 2014 by Charlie

Adrienne Altamirano describes her young son Noah’s struggles with the infantile spasms that resulted from his tuberous sclerosis.

When we first had Noah, he seemed to always be crying, but it was not a typical newborn cry. He hardly slept. When he was about four months old, he started having these jerking movements. He didn’t do it very often. But the more it happened, the more he would cry. And I thought, ‘This is not right.’

(Above) Noah Altamirano.

The pediatrician said that maybe he was reacting to really bad heartburn or acid reflux. I had made an appointment with a dermatologist because he also had white, ashy spots on his skin. The dermatologist looked at him, and she looked at me and asked if he had had any weird movements lately. I said that he had. She wanted to get him to neurology, and the neurologist admitted him right away.

They said that Noah could possibly have tuberous sclerosis complex—a genetic disorder that causes benign tumors to grow in the brain and other organs. They wanted to do an EEG of his brain, and an ultrasound of his kidneys.

Noah Altamirano and his father, Gilberto

(Above) Noah and his father, Gilberto.

My husband is a petty officer in the Navy, and at that time he was away. As a military wife, I have to go with the flow. I have two older sons; Moises, who is seven and Aaron, who is 12, and it was very overwhelming.

The test results showed that Noah had tuberous sclerosis, and epilepsy with infantile spasms. He was four months old when the spasms started and seven months old when they diagnosed them.

They put him on medication, and within a day his spasms stopped. He still cries a lot. Naptime is very precious. I try to comfort him, and often that doesn’t work. Sometimes he just has to work it out and cry until he falls asleep.

He has SEGA tumors in a very dangerous position in his brain near his nerve endings.
SEGA tumors are not cancerous or malignant, but can still cause problems. We’re keeping an eye on those. He also has tumors in his kidneys. We’re working on that with the renal doctors. He is beginning to show early signs of autism.

(Above) Adrienne and Noah Altamirano.

The spasms delayed his development. He didn’t roll over until he was about eight months old. He didn’t start crawling until he was ten months old. He recently started pulling himself up in the crib and standing up at 12 months.

He’s 14-months-old now and still not walking. A week ago, he said ‘Mama’ and ‘Dada’ at the same time. Those were his first words. He has trouble feeding and swallowing.

He can’t have that much table food.
I have to make it small enough for
him to swallow, but he doesn’t want baby food.

I’ve been very fortunate to be able to stay at home and work with him and help him.

We have good days and bad days.

On bad days, he has this horrible, heartbreaking cry. He throws himself around.
Sometimes he hits at his head and pulls his hair. It’s hard to figure out where the pain is coming from. We give him different medications for it. He’s been exposed to so much already. He doesn’t sleep when he has bad days, maybe for 15 minutes.

He’s my baby. To hear him scream and cry is very difficult. I cry when he cries. But I never let go of my faith that we’re going to get through this.

We have great days. When I clean the house, I put on music. He laughs, plays, jumps, and dances in the jumper. He can’t stand by himself yet. He’s still wobbly, but he’s getting there.

Noah loves to be outside, on the beach and the pier, to go for walks in his stroller, to look up at the sky, and go on the swings in the park. He loves Disneyland—the fireworks, the rides, and the characters. By the end of the night, he’s exhausted.

(From left to right) Aaron, Noah, and Moises Altamirano.

He also loves to wrestle with his stuffed animals in his playpen. I can hear him rolling around, growling at them.

Aaron and Moises are the greatest brothers in the world. To them, there’s nothing wrong with Noah. He loves to play on them and jump on them when they’re on the floor.

He’s been seizure-free for seven months. He started holding his bottle and sippy cup by himself. He’s not a small kid, so it was hard for me to hold him, and the bottle, and the cup. It was a huge step for him, holding them. It was very exciting to see.

I’m a member of the Tuberous Sclerosis Alliance. We have events in Southern California, where we get the parents and children together. I have made so many friends with this alliance. We can call on each other. We call each other ‘the TSC Family.’

Noah will always have tuberous sclerosis. He will always be seizure-prone. We will always have to check that the tumors are not growing, causing pressure to build up in his brain.

(Above) Noah Altamirano.

A lot of children with tuberous sclerosis are on different points on the autism spectrum. It’s possible that the behavioral issues and autism won’t happen, but seizures
and tumors will always be a part of our lives.

Fortunately, there are military programs for family members with disabilities. Someone will be coming once a week to help him meet certain milestones. He will have a physical therapist, an occupational therapist, and a behavioral therapist, and he’ll attend a special school.

My mother has been a big help and a big support for me. When I need her, she’s there. Aaron, my oldest son, can hold Noah and get him into the high chair. He has taken on the role of the big brother so amazingly. I don’t even have to ask him to do something.
He just automatically does it.

Don’t get me wrong—I cry every single day—but I do what I have to, because this is my son. At first, I thought, ‘It’s not fair,’ but then I accepted it. We’re just going to move forward and keep on going. I take care of him, cherish him, and love every single moment. We don’t know what the future holds, but we’ll get through it with a lot of love and a lot of care.

Adrienne Altamirano and her sons

(Above) Adrienne and her sons Moises, Noah, and Aaron.

If you have a story that you’d like to share with CVC, email us at http://www.caringvoicecoalition.org/2013/05/share-your-story-2/. Your words can give support to others and let them know that they’re not alone.

RESOURCES

Citizens United for Research in Epilepsy
430 W. Erie, Suite 210
Chicago, IL 60654
Toll-free: 800-765-7118
www.CUREepilepsy.org
[email protected]

The Child Neurology Foundation
201 Chicago Avenue, #200
Minneapolis, MN 55415
Toll-free: 877-263-5430
www.infantilespasmsinfo.org

The Tuberous Sclerosis Alliance
801 Roeder Road, Suite 750
Silver Spring, MD 20910
Toll-free: 800-255-6972
www.tsalliance.org
[email protected]

Posted in About Us, Diseases, Featured, Uncategorized | Tagged Adrienne Altamirano, child neurology foundation, citizens united for research in epilepsy, CURE epilepsy, CUREepilepsy, Epilepsy, epileptic, genetic disorder, in their words, in your words, infantile spasm, Infantile Spasms, neurology, Noah Altamirano, SEGA tumor, seizure, seizures, tuberous sclerosis, tuberous sclerosis alliance | Leave a comment

Family Medicine

Posted on December 18, 2013 by CVCinfo

The role of genetics—in researching, predicting, diagnosing, preventing, and treating rare and chronic illness—is dramatically expanding. Community asked leaders in genetic medicine what that means for you and your loved ones. Eva Leonard reports.

The Immortal Life of Henrietta Lacks Since the 1990 initiation of the Human Genome Project to map the human genome, and its completion in 2003, the pace of genetic research has steadily accelerated. Most diseases have a genetic component, but, according to the CDC, “researchers have identified only a small fraction of the genetic component of most diseases.”

Perhaps nothing better illustrates the surge in public interest in genetics than the best-selling status of 2010’s “The Immortal Life of Henrietta Lacks,” in which author Rebecca Skloots compellingly chronicles the true story of Lacks, a young woman with cervical cancer, whose tumor cells were taken and cultured by a researcher, without her knowledge or permission.

Lacks died in 1951 at the age of 31, and in the six decades since, her tumor cells—which are “immortal,” and unusual in that, unlike most cells, they keep growing and multiplying in lab culture—have been used to establish the HeLa (for Henrietta Lacks) cell line. The HeLa cell line has helped researchers study and develop treatments for diseases including polio, cancer, hemophilia, AIDS, Parkinson’s disease, and leukemia, It’s estimated that more than 50 million metric tons of HeLa cells have been grown for use in invaluable lifesaving medical research worldwide since Lacks’ death.

HeLa cells. Photos: NIH

(Top, left) Cover of “The Immortal Life of Henrietta Lacks.” (Above) HeLa cells. Photos: NIH (Below) Dr. Kevin Strauss (right) and Dr. Holmes Morton (center) of the Clinic for Special Children, and a young Menonnite patient (left) at a Shippensburg, Pennsylvania benefit auction for the clinic. Photo: Matthew Sware

Dr. Kevin Strauss (right) and Dr. Holmes Morton (center) of the Clinic for Special Children, and a young Menonnite patient (left) at a Shippensburg, Pennsylvania benefit auction for the clinic. Photo: Matthew Sware

Lacks’ family was unaware that the HeLa cells were being used for research until the 1970s. In August 2013, NIH and the Lacks family announced an agreement allowing biomedical researchers controlled access to the data gathered from study of the HeLa genome, and the Lacks family a role in the work being done. Researchers who use or generate data from HeLa cells will now be asked to include in their publications an acknowledgement and expression of gratitude to the Lacks family for their contributions.

Lacks’ story has generated so much interest that Oprah Winfrey plans to produce an HBO screenplay adaptation of the book. Beyond Hollywood, this prompts the question: How do genetics affect patients and families living with chronic and rare diseases?

Personal Power

Sharon Terry, President and CEO of the nonprofit health advocacy organization, Genetic Alliance, found herself drawn into genetic research advocacy when her own children were diagnosed with the rare genetic condition pseudoxanthoma elasticum (PXE) in 1994.

Their children’s diagnosis led Terry and her husband Patrick to found the research advocacy organization, PXE International, eventually resulting in the discovery of the gene associated with PXE. Terry recalled, “My husband and I felt that if we didn’t do something, nothing would be done.”

Terry believes that genetic research will have a profound impact on health care over the next decades. “We will have a much better understanding of disease,” she said. “We’re also going to be able to understand what role environment plays.”

“We all have some things in our genome that are not perfect. We believe that the individual needs to be empowered. We offer tools to help them deal with it,” Terry said, and tools to answer the question, “‘How do I get involved in research?’”

Genetic Alliance’s goal, Terry said, is “that we get better at finding ways of empowering people. We want treatments for all of these diseases. We want to accelerate people getting the services they need.”

Family History

When Venezuelan physician Americo Negrette arrived in San Luis, Venezuela in 1952 to begin his rural internship, he observed the uncontrolled movements and unsteady gait of many of the residents of several insolated, impoverished villages along the shores of Venezuela’s Lake Maracaibo. Negrette initially thought they were intoxicated. Locals called the condition “el mal de San Vito” (the sickness of St. Vitus).

Negrette was intrigued and began researching the illness among the local population. Through his studies, Negrette determined that “el mal” was in fact Huntington’s disease.

In 1968, psychoanalyst Milton Wexler founded the Hereditary Disease Foundation when his wife, Leonore, was diagnosed with Huntington’s disease. Four years later, Negrette’s colleague, Ramon Avila-Giron, presented a film about one of the Venezuelan HD villages to attendees of a Huntington’s disease symposium. The audience was astounded, having never before seen such a large concentration of Huntington’s patients. Leonore and Milton Wexler’s daughter, Nancy, was in the audience.

Leonore Wexler succumbed to Huntington’s disease in 1978. The next year, Nancy Wexler began a 20-year study of the families living around Lake Maracaibo. They would later become known as the world’s largest Huntington’s disease family.

The Clinic for Special Children, Strasburg, Pennsylvania. Dr. Holmes Morton speaking at a Mifflinburg, Pennsylvania benefit auction for the Clinic for Special Children. Photo by Matthew Sware Over the course of the next decades, Wexler and her team studied more than 18,000 residents of the area, mapping their vast family tree, and collecting more than 4,000 blood samples. They ultimately traced the gene’s origins in the region to one common ancestor, Maria Concepción Soto, who died from Huntington’s disease in 1880, and who might have inherited the HD gene from a European sailor who was her father.

(Above) The Clinic for Special Children, Strasburg, Pennsylvania. (Below) Dr. Holmes Morton speaking at a Mifflinburg, Pennsylvania benefit auction for the Clinic for Special Children. Photos by Matthew Sware

Dr. Holmes Morton speaking at a Mifflinburg, Pennsylvania benefit auction for the Clinic for Special Children. Photo by Matthew Sware

In 1983, as a result of their research on the Venezuelan families, Wexler and her team discovered the location of the gene that causes Huntington’s disease, and in 1993 they isolated the Huntington’s gene.

The discovery of the HD gene led to the development of the HD test, which can determine whether pre-symptomatic individuals will develop the disease. The blood samples collected by Wexler have also helped map genes for diseases including familial Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), and kidney cancer.

Today, modern genetic technology is helping treat communities whose ways of life are deeply rooted in tradition. Built and supported by Amish and Mennonite families, the Clinic for Special Children was founded in 1989 in Strasburg, Pennsylvania by D. Holmes Morton, M.D., and his wife, Caroline.

During Dr. Morton’s research fellowship at Children’s Hospital of Philadelphia, his diagnosis of an Amish boy’s illness led to the discovery of 16 other Amish children in the same community with the same rare disorder, known as “Amish cerebral palsy,” which was actually glutaric aciduria type 1 (GA1).

Learning that Amish and Menonnite children can be particularly vulnerable to certain genetic disorders, including alpha-1 antitrypsin deficiency and complex partial epilepsy, the Mortons decided to establish the Clinic for Special Children. The clinic is dedicated to researching and treating the rare diseases found in these communities, aiming to prevent disability and early death, and to do so locally and inexpensively, with state-of-the-art technology.

Community spoke with Kevin A. Strauss, M.D., Medical Director of the Clinic for Special Children about the clinic’s genesis and mission.

Kevin A. Strauss, M.D., Medical Director, the Clinic for Special Children

(Above) Kevin A. Strauss, M.D., Medical Director, the Clinic for Special Children

After the clinic set up local pediatric services, it very quickly became clear that a number of other diseases in this population would be amenable to this kind of approach. We deal with more than 140 rare genetic diseases, and we discover on average four genetic diseases every year.

We’re supported by, and here to serve, uninsured Amish and Mennonite patients. We’re trying to find the most robust, affordable and rapid technologies for our populations.

One of our guiding principles is that we’re continually trying to utilize biomedical diagnostics to deliver better services to patients. We have a Ph.D. molecular geneticist on staff and can do very affordable molecular testing.

For our alpha-1 patients, we do a 45-minute test for $50, using light scanner technology and thermocycling for high-res genotyping analysis. It’s a very simple DNA-based test, and it’s cheaper than doing serum enzyme testing. I don’t think a lot of people are using this technology.

Alpha-1 is more common in the Amish and Mennonite communities than what you would find in the general population. The Amish and Mennonites are what you call ‘founder populations.’ In the late 1600s, they began migrating from Switzerland to the U.S., but very few of them survived the voyage.

Father and child, Shippensburg, Pennsylvania benefit auction for the Clinic for Special Children. Photo: Matthew Sware, the Clinic for Special Children

(Left) Father and child, Shippensburg, Pennsylvania benefit auction for the Clinic for Special Children. Photo: Matthew Sware, the Clinic for Special Children

Approximately 100 couples are the sole genetic stock for the approximately 30,000 Amish in Lancaster County, Pennsylvania. They’re small gene pools for large populations. There is a higher incidence of some diseases within these populations, because carrier status gets carried on.

Complex partial epilepsy is not a single entity, but multiple different genes and it’s probably the fourth or fifth most common diagnosis in our patients.

There are different genetic risks based on ethnicity. There are also certain genetic diseases they don’t get. Cystic fibrosis, for example, is unheard of in Amish and Mennonite patients.

Although the Amish and Mennonite are averse to technologies that are divisive, like iPods, they are accepting of technologies that are life-affirming and beneficial to the children and the community. They are very willing to participate in clinical research. More than 70 published papers have come out of research that we have done here.

What I find most striking about the clinic is that it’s a model for traditional old-fashioned medicine, caring for the individual on a local, low-cost basis, during the most astonishing revolution in human biology. At no other time in modern medicine have we had this opportunity to determine a person’s health risk before they develop symptoms. All of that progress can be leveraged to benefit the patient. The communities we serve are providing us with lessons about how we can choose to use technology, and how our values guide our science.

The CDC reports that, “genetic tests have been developed for more than 2,200 diseases, of which 2,000 are currently available for use in clinical settings.” Community spoke with Rebecca J. Nagy, President of the National Society of Genetic Counselors about the importance of genetic counseling for those undergoing genetic testing.

What are the different types of genetic counseling?

Genetic counselors care for patients and families with a variety of conditions that cover the entire lifespan. Prenatal genetic counselors work with individuals who have concerns around a pregnancy that may be at increased risk based on family history, exposures or the mother’s age.

Pediatric genetic counselors work closely with physicians and see infants and children who may have a genetic condition. The physician works to obtain the correct diagnosis, and the genetic counselor is there to help the family understand what this diagnosis means for the child and the family, for future pregnancies and other family members.

Some genetic counselors work in the adult setting, seeing patients who have concerns about a family history of heart disease, cancer or other adult onset conditions. All of these clinical genetic counselors (prenatal, pediatric and adult) provide support and resources to the family while they are coping with and adjusting to their diagnosis.

Finally, there are many genetic counselors who work outside of the clinical setting. Some work in laboratories and serve as a conduit between the lab and physicians, helping them understand what specific test results might mean. Many genetic counselors are involved in research, public health or administration.

Rebecca Nagy

(Above) Rebecca J. Nagy, President, the
National Society of Genetic Counselors

When should genetic testing for rare and chronic diseases be accompanied by genetic counseling, and why?

Learning that you or your child has a genetic condition can be difficult and emotional. It may also have implications for other family members.

By seeing a genetic counselor before testing, individuals and families can make an informed decision about whether testing is the right choice for them and can also be provided with information about the likelihood that their condition is hereditary and whether or not genetic testing would be helpful.

If genetic testing is ordered, genetic counselors can help the individual/family understand what the results mean for them and their family, and they can work together with the physician to make sure proper medical management recommendations and/or treatment plans are put in place.

Genetic counselors can also provide the family with support and resources to help them cope with the diagnosis, if necessary. For example, genetic counselors can help the family identify other families who have a child or family member with the same diagnosis and can identify advocacy and support groups that can provide ongoing information and support.

They can also coordinate referrals to other specialists and can be an ongoing resource if new developments are made in the field. Many of my patients will check back in with me each year to see if there is anything new that they should know about their diagnosis or the treatment for their condition.

What should patients, families, and caregivers look for when selecting a genetic counselor?

You can find a genetic counselor in your area by going to NSGC.org and clicking on the Find a Counselor tool. This provides a listing of board certified/board eligible genetic counselors.

Board eligible counselors have completed training at an accredited genetic counseling training program and are eligible to sit for their certification exam, which is offered twice a year. Board certified genetic counselors have also graduated from an accredited program and have passed this certification exam.

What tips can you provide for talking to family members about the need for genetic testing and counseling?

When approaching family members about the need for genetic counseling or testing, it is important to understand that not everyone in your family will want to undergo testing and counseling. And those that do undergo testing may not make the same decisions about what they wish to do with the information.

Sharing the information with family members and helping them find a genetic counselor is enough. Family members can then make their own choices about whether testing and counseling is right for them.

Blood samples at the Clinic for Special Children. Photo: Matthew Sware

(Above) Blood samples at the Clinic for Special Children. Photo: Matthew Sware

Many times, genetic counselors will provide patients with a family letter that explains what testing has been done, what it might mean for family members and how to find genetics professionals in their area. This is an easy way to communicate with family members and it takes the burden off of the patient to have to contact everyone by phone and have what may be a difficult or awkward conversation.

What role do you see genetic testing and counseling playing in medicine over the next 10 to 20 years?

The demand for genetic counseling and testing will continue to rise. Genetic testing is now a part of mainstream medicine and is already being used to help diagnose and treat diseases differently than we did even five to 10 years ago.

I see this trend continuing and expanding out into other areas. Given new testing technologies such as whole exome and whole genome sequencing, genetic tests are so much more complex, which makes the interpretation of test results more difficult. It will be critical for individuals and their families to have access to genetics professionals who can interpret this complex information for them.

Look for Part II of “Family Medicine” in the Spring 2014 issue of Community, featuring interviews with rare disease specialists, including Columbia University’s Wendy Chung, M.D., who discusses genetic research on pulmonary hypertension.

The Genetic and Rare Diseases Information Center (GARD)
Created by NIH in 2002 to help people find useful information about genetic and rare diseases, GARD provides immediate, virtually round-the-clock access to experienced information specialists who can furnish current and accurate information—in both English and Spanish.

GARD has information on:

What is known about a genetic or rare disease
What research studies are being conducted
What genetic testing and genetic services are available
Which advocacy groups to contact for a specific genetic or rare disease
What has been written recently about a genetic or rare disease in medical journals

The Genetic and Rare Diseases Information Center (GARD)
P.O. Box 8126
Gaithersburg, MD 20898-8126
Toll-free: 1-888-205-3223
http://rarediseases.info.nih.gov/GARD
E-mail: [email protected]

Genetic Alliance
This nonprofit health advocacy organization is committed to transforming health through genetics and promoting an environment of openness. Genetic Alliance’s www.genesinlife.org website provides information about health and genetics. Genetic Alliance offers “Does It Run in the Family?” a free online booklet that families and communities can download at www.familyhealthhistory.org and customize to use in collecting family health history.

National Human Genome Research Institute
Communications and Public Liaison Branch
National Institutes of Health
Building 31, Room 4B09
31 Center Drive, MSC 2152
9000 Rockville Pike
Bethesda, MD 20892-2152
Tel. 301-402-0911
www.genome.gov/Patients

National Society of Genetic Counselors
330 N. Wabash Avenue, Suite 2000
Chicago, IL 60611
Tel. 312-321-6834
www.nsgc.org