New Draft Guidance Aims To Accelerate Cure, Improve Drug Development for DMD

Duchenne Muscular Dystrophy (DMD) accounts for over half of all cases of the disease. This variety progresses quickly and while treatments exist to slow the rate of muscle deterioration and boost cardiovascular and respiratory function, there is currently no cure. Parents of children suffering from this disease, along with drug company executives, scientists, and clinicians, drafted a guidance aimed to encourage pharmaceutical companies to change the scope of their research with hopes that the FDA will accelerate drug development for this fatal illness.

DMD research has suffered multiple frustrating setbacks in the past few years. According to the Wall Street Journal, two later-stage drug trials at PTC Therapeutics and Prosensa failed. Pat Furlong, president of the Parent Project, emphasized the importance of learning from these failures and moving forward with new ideas. She told the WSJ “We learned we need to do things differently.”

The problem, according to the WSJ, is that current trials test the drug’s efficacy with parameters that limit the number of people who can participate. Some tests specify that the patient should be able to walk to prove the drug’s efficacy, while others set age limits too high. Both measures eliminate large numbers of available and willing participants. Furthermore, without guidance from the FDA, scientists disagree about what constitutes success in a DMD drug trial.

Another problem facing DMD research is variance within the disease. DMD can manifest as a result of multiple genetic mutations and a treatment that might be suitable for one case of DMD will not necessarily be effective in another case.

This week PTC Therapeutics received conditional EU approval for Translarna, a treatment that targets the underlying causes of nonsense mutation DMD.  If the drug proceeds as planned, Translarna would be the first treatment designed specifically for DMD to be approved. Mark Rothera, Chief Commercial Official of PTC stated, “It is our highest priority to make Translarna available to patients and we will be working with regulators, payers, physicians and patient organizations to make that a reality."

Translarna, however, only targets one specific genetic mutation and cannot be used to treat all children with DMD. While this milestone is encouraging to those who wait for a cure, it underscores the need for more expansive research, clinical trials, and a wider variety of participants.

While the FDA has issued no DMD guidance of its own at this time, Robert Temple, a deputy director at the Center for Drug Evaluation and Research, told the WSJ that the FDA is studying the proposed new guidance “intently” and “intensively”