First phase II trial of heart disease treatment for Duchenne muscular dystrophy launched

October 12, 2010

Baltimore, Md. -- Kennedy Krieger Institute announced today the launch of a first-of-its-kind, phase II clinical trial to investigate a treatment for heart disease in individuals with Duchenne muscular dystrophy (DMD). Made possible by a $545,000 grant from Pilot Trials Now, an innovative DMD initiative organized and managed by Charley's Fund Inc. and The Nash Avery Foundation, with additional support from Pfizer Inc., the study will examine whether Revatio (sildenafil) improves cardiac function for those affected by the most common fatal genetic disorder in the world.

DMD affects approximately 1 in 3,500 boys worldwide. Errors in the gene that codes for dystrophin, a protein that plays a key role in muscle fiber function, result in progressive muscle-wasting that eventually spreads throughout the body, affecting both the heart and lung muscles, ultimately resulting in paralysis and death by early adulthood. With no cure for DMD, researchers hope that preserving the function of key muscles such as the heart and lungs can contribute to increased life expectancy.

The Kennedy Krieger Institute research team, working collaboratively with the Division of Cardiology in the Johns Hopkins University School of Medicine, will investigate whether Revatio (sildenafil), the same drug in Viagra which is best known for its efficacy in treating male erectile dysfunction, can improve cardiac function by preventing pathologic left ventricular hypertrophy, an unhealthy increase of the heart's muscle mass that outpaces the heart's pumping ability. In research first pioneered by co-investigator David Kass, Johns Hopkins' Abraham and Virginia Weiss Professor of Cardiology, sildenafil was shown to suppress and even reverse heart muscle dysfunction and hypertrophy in experimental animal models. Recently, research supported by Charley's Fund Inc, The Nash Avery Foundation and the Parent Project Muscular Dystrophy revealed cardiac benefits of sildenafil in mouse models of muscular dystrophy.

"We are very excited to be offering a clinical trial to this older Duchenne muscular dystrophy population with this promising drug," said Dr. Kathryn Wagner, Director of the Center for Genetic Muscle Disorders at Kennedy Krieger. "For the first time in decades, there are promising therapies in development that I believe should give families a real sense of hope for the future."

Thirty males, aged 15 years and older, who have been diagnosed with DMD and cardiac dysfunction, are being recruited to participate in this randomized, double-blind, placebo-controlled study for six months. An open-label period during which all enrolled subjects will receive Revatio (sildenafil) will follow for an additional six months. Dr. Daniel Judge, Medical Director for the Johns Hopkins Center for Inherited Heart Diseases, will co-direct the trial.
For more information regarding the risks, benefits, and how to qualify, visit

About the Kennedy Krieger Institute

Internationally recognized for improving the lives of children and adolescents with disorders and injuries of the brain and spinal cord, the Kennedy Krieger Institute in Baltimore, MD serves more than 16,000 individuals each year through inpatient and outpatient clinics, home and community services and school-based programs. Kennedy Krieger provides a wide range of services for children with developmental concerns mild to severe, and is home to a team of investigators who are contributing to the understanding of how disorders develop while pioneering new interventions and earlier diagnosis. For more information on Kennedy Krieger Institute, visit

About Pilot Trials Now

Pilot Trials Now is a new program that supports human clinical trials for DMD patients using repurposed FDA-approved drugs. The translation of exciting science to the stage of clinical trials is something that has historically been a challenging process for fighting this disease. The Pilot Trials Now initiative is administered by Charley's Fund and The Nash Avery Foundation and it has numerous other treatments that are at various stages of clinical trial development. Several other DMD foundations are major contributors to this initiative, including Action Duchenne, Cure Duchenne, and Hope for Javier.

About Charley's Fund Inc.

Charley's Fund Inc. is a not-for-profit foundation that finances therapeutics development for Duchenne muscular dystrophy. The foundation's mission is to expedite a treatment or cure in time to help this generation of children who suffer from DMD. Charley's Fund Inc. targets translational research -- research that moves science from the lab into human clinical trials. The 501 (c)(3) public charity was co-founded in 2004 by Benjamin Seckler, M.D. and Tracy Kramer Seckler, whose son Charley has Duchenne muscular dystrophy. To learn more about Charley's Fund Inc., visit

About Nash Avery Foundation

The Nash Avery Foundation is a not-for-profit private foundation that is focused on financially supporting programs that will slow and eventually stop Duchenne muscular dystrophy. Nash Avery Foundation was founded by Angela and Tom Wicka after their son Nash was diagnosed with DMD. The Foundation believes that the solution in stopping this disease will come from a combination of well funded science and getting talented people focused on this disease.

Kennedy Krieger Institute

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