KINGSTON, Mass., Sept. 20, 2016 /PRNewswire-USNewswire/ -- Today, the Jett Foundation, a not-for-profit organization committed to finding and advocating for treatments for Duchenne muscular dystrophy celebrates a milestone in the fight for treatment of the lethal disease. News that the FDA has approved the drug, eteplirsen, an exon-skipping Duchenne therapy manufactured by Sarepta Therapeutics, makes history as the first safe and efficacious therapy approved for treatment of Duchenne in the United States.
Duchenne is a progressive muscle disorder that causes loss of muscle function and independence and is the most common lethal genetic disorder diagnosed during childhood. It affects approximately one in every 3,500 boys, or 20,000 babies born each year worldwide. Eteplirsen is vital to those fighting with Duchenne because of its ability to produce dystrophin, the muscle-lubricating protein that is missing in patients with Duchenne.
After more than 16 years of funding Duchenne research and spreading awareness about the disease, and more than four years of advocating that patient experience be considered by FDA when reviewing safe and potentially efficacious treatments for Duchenne, Christine McSherry, the founder of the Jett Foundation and mother of Jett McSherry, who suffers from Duchenne and is participating in a clinical trial for eteplirsen, sees this as a significant step forward in saving and prolonging patients' lives.
"The FDA approval of a therapy that treats Duchenne is an event I once never imagined I would witness in Jett's lifetime," McSherry said. "Not only will eteplirsen's approval change the way every mom and dad reacts when they hear their child's diagnosis, it gives hope to an entire generation of children that they too may have the opportunity to live a fuller and more normal life, a life where they can be just like their peers for a little while longer. However, the weeks, months and years of unnecessary and burdensome regulatory barriers that eteplirsen faced came at a massive, and unacceptable, human cost to the Duchenne patient community."
The inability to produce dystrophin (due to a genetic mutation on the dystrophin gene) is why muscle function degenerates in Duchenne patients and they end up non-ambulatory at a young age. Ten out of 12 boys with Duchenne walk after four years of treatment on eteplirsen. A trial with more than 83 percent of patients walking longer than predicted shows that this is more than marginal progress in the fight against Duchenne, it's a breakthrough.
Thousands of families endure the emotional pain, heartache and struggle daily of dealing with Duchenne, a handful of whom have been able to participate in eteplirsen trials and have shown compelling improvement. For example, one patient in eteplirsen's clinical trial has continued playing volleyball, the sport he loves, with his classmates long past the time he should have stopped walking. Another patient in eteplirsen's non-ambulatory trial has begun walking again, regaining independence and the ability to perform simple activities of daily living such as getting out of bed, which he lost prior to starting the therapy.
"I believe that FDA considered the science and the entirety of the patient experience when reviewing eteplirsen's data. That is what the agency should do, especially in a deadly and rare disease such as Duchenne," said McSherry.
Patients with Duchenne who are not amenable to eteplirsen are still waiting for safe and effective treatments. However, eteplirsen's accelerated approval will hopefully lead to continued research and the rapid consideration and FDA approval of additional Duchenne therapies developed by Sarepta and other biopharmaceutical companies. Jett Foundation plans to continue to advocate for timely approvals of safe and potentially effective treatments for Duchenne, for ethical protocol designs and transparency among companies in the disease space, and for the consideration of the patient perspective throughout the drug development process.
"We are still foot soldiers in this war, there is so much work left to do and so many battles left to win," McSherry added. "I urge the FDA to rapidly consider and approve treatments for the rest of the exons. The entire Duchenne patient community cannot be subjected to years of regulatory barriers before they have access to safe and potentially effective therapies that could prolong and improve their lives. Let's continue to fight for every child living with Duchenne together. As long as there is a child living with Duchenne, Jett Foundation will exist to fight their battles big and small. As we, the Duchenne community, forge a new path toward a future where tangible hope for a cure for this disease now thrives, the staff at Jett Foundation will not rest until every child has access to a safe and effective therapy."
Eteplirsen is a mutation specific drug that treats the 13 percent of the Duchenne population that is amenable to the skipping of exon 51 on the dystrophin gene. To find out if you or your child is amenable to eteplirsen, you should contact your physician and go to www.duchenneconnect.org/decode.html for free genetic testing. We look forward to hearing from Sarepta on their plans launch eteplirsen in the US and amenable patients should contact their physicians for information on starting the therapy.
About Duchenne muscular dystrophy
Duchenne is a progressive neuromuscular disorder that causes a loss of motor, pulmonary, and cardiac function, and premature death. It is the most common lethal pediatric genetic disorder, and it affects every 1 in 3,500 live male births and some females. Duchenne is caused by the body's inability to create dystrophin, a large protein found in muscle cells. Duchenne has no FDA approved treatment or cure and is 100 percent fatal. Children with Duchenne are born normal and decline over time, usually losing their ability to walk around the age of 12 and succumbing to the disease in their early to mid-twenties.
About the Jett Foundation
Since 2001, Jett Foundation, located in Kingston, Mass., has worked to find treatments and a cure for Duchenne muscular dystrophy (DMD) while improving the lives of those affected by DMD. The Jett Foundation is a registered charity with 501(c)(3) status from the IRS; all donations are tax deductible. www.jettfoundation.org.
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SOURCE Jett Foundation