Chicago-area families are advocating for new medications for what would be the first and only treatment in the United States for Duchenne muscular dystrophy. Duchenne, a genetic disorder that mostly affects boys, results in progressive muscle weakness and can lead to heart-related death before the age of 25. There is no cure for Duchenne and currently no FDA-approved treatment.
Families are pinning their hopes on FDA approval of new drugs that could substantially help the 15,000 boys and their families living with the diagnosis, says Debra Miller. She and her husband, who have a son with Duchenne, co-founded CureDuchenne, a nonprofit that raises awareness and funds for the disease. The lack of an FDA-approved drug leaves parents and their afflicted children without access to treatment that would help maintain their strength, Miller says.
The pace of research and drug trials is too slow for those facing a a progressive disease like Duchenne, says Peter Smith, MD, an orthopedic surgeon at Shriners Hospitals for Children— Chicago.
“The children we treat, their parents and the caregiver teams have high hopes for the development of a treatment of the underlying fundamental genetic flaw in making the right muscle protein,” Smith says. “The difficulties getting these new medications approved highlights that we need better ways to measure the progression of this disease, and more research to find what works.”