CureDuchenne applauds the first-ever approval of a drug in the U.S. to treat Duchenne muscular dystrophy. The drug, Exondys 51 (eteplirsen), manufactured by Sarepta Therapeutics, Inc., received accelerated approval today from the Food and Drug Administration (FDA).

Duchenne is a fatal genetic disease that causes crippling muscle degeneration, almost always in boys and young men. CureDuchenne, through its venture philanthropy model, provided critical early funding and support that contributed to the development of eteplirsen.

“The first FDA-approved treatment for Duchenne is a landmark in our fight against this disease. It provides hope for all Duchenne families. Eteplirsen is a huge step forward in turning Duchenne muscular dystrophy from a fatal disease into a more manageable condition,” said Debra Miller, Founder and CEO of CureDuchenne. “Boys on eteplirsen have experienced improvements in quality of life that are amazing for a progressive disease that has remained without an approved drug for so long.

“While this FDA approval is important for the Duchenne community – one that we have worked for tirelessly for more than a decade – it is only a starting point for more research and discovery. Major scientific advances are still needed so that all boys can be free of this disease.”

CureDuchenne led the fight for eteplirsen, providing early funding that helped it to move into human trials. CureDuchenne has worked from the beginning with the Duchenne patient and parent community, with the sponsor company, clinicians who work directly with Duchenne patients, and the FDA. CureDuchenne brought together key opinion leaders, physicians, parents and regulators to provide the patient voice about the need to approve eteplirsen.

“CureDuchenne helped us very early on in in the development of the program. They gave us a jump start on clinical trial development,” said Ed Kaye, M.D., Interim CEO and Chief Medical Officer of Sarepta. “This is a very long journey. I would look at eteplirsen as the first step in a long process of trying to get better and better drugs for this community.”

“We know there is a lot of work to be done,” said Miller. “This news gives us great hope. But we cannot rest until there are therapies – and, ultimately, cures – available to everyone with Duchenne.”

Duchenne affects 300,000 patients worldwide (see an explanatory infographic here, as well as a short video about one family’s experience coping with the disease here). Because of a variant in sections of genetic code – known as exons – Duchenne patients are missing a key muscle protein called dystrophin. Without it, muscle cells become damaged and die. The simplest of tasks become difficult for those with Duchenne, and in the later stages, heart and breathing muscles begin to fail. Boys with Duchenne are usually diagnosed by the age of 5 and lose their ability to walk by age 12. Most don’t survive their mid-20s.

Eteplirsen is based on a concept called exon-skipping. In effect, the drug tells the body to ignore exon 51, the damaged gene section in many Duchenne patients, thus encouraging the cells to produce new dystrophin and thereby maintain muscle strength.

Because of the complexity and wide variability of the human genome, eteplirsen is not expected to benefit more than 13 percent of Duchenne patients. However, the drug represents a major step forward in helping find a treatment for those with Duchenne caused by other exon mutations.

Debra Miller and her husband Paul founded CureDuchenne in 2003 after their son Hawken, now 19, was diagnosed with Duchenne. CureDuchenne has raised more than $20 million in the fight against Duchenne and has leveraged more than $100 million from venture capital, biotech and pharmaceutical companies and other foundations to fund research leading to a cure.

CureDuchenne uses a venture philanthropy model, making investments in, or giving grants to, companies and researchers doing promising work. In the last year it has invested $1 million in MyoTherix Inc., a biotechnology company focused on developing novel therapeutics for the treatment of Duchenne and other muscular dystrophies. It also has invested $1.5 million in Capricor Therapeutics, a biotechnology company, to advance promising research to treat heart muscle failure associated with Duchenne muscular dystrophy. CureDuchenne has also invested in RASRx for an anti-fibrotic treatment and Bamboo Therapeutics, which is now being acquired by Pfizer Inc., for a gene therapy treatment.

About CureDuchenne

CureDuchenne is a national nonprofit organization dedicated to finding a cure for Duchenne, the most common and most lethal form of muscular dystrophy. As the leading genetic killer of young boys, Duchenne affects more than 300,000 patients worldwide, most of them boys and young men. CureDuchenne has garnered international attention for its efforts to raise funds and awareness for Duchenne through venture philanthropy. For more information on how to help raise awareness and funds needed for research, please visit www.cureduchenne.org, and follow us on FacebookTwitter and YouTube.

 

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