It has been an absolute whirlwind of a few weeks in the DMD world, capped by the approval of Eteplirsen, the first drug to combat DMD. Just last week, the first ever administration of eteplirsen took place at UF Health, a moment that I'll remember and cherish forever.
For years, the DMD community of families, patients, scientists, and clinicians have defied boundaries and pushed forward to advance research and treatment options for DMD. Though dystrophin was originally identified by Dr. Kunkel and colleagues in 1987, treatments still eluded researchers. Treatments were initially limited to symptomatic management of the disease, rather than attacking the root cause of the disease. A huge turning point occurred in 2001, with the approval of the MD CARE Act, which provided the impetus of funding for vast amounts of research of muscular dystrophies. Interestingly, around the time that the MD-CARE Act was initiated, survival of DMD rarely extended into the 20s, but by 2010, survival from DMD reached the 30s. This single understanding of the prolongation of quality life demonstrates how powerful and necessary research is in these diseases.
However, all has not been smooth during the process to approve Eteplirsen. Several potent obstacles were faced throughout the evolution of clinical trials for all drugs in DMD. First, though DMD is more common than other muscular dystrophies, it is still a rare disease, and no two mutations are identical, making for a very difficult time for researchers to adequately power clinical trials. In April 2016, a split vote by the FDA recommended against the approval of eteplirsen, showing how controversial the approval of this drug is. The FDA raises fair concerns that Eteplirsen may not be as effective as studies show, and that it's approval is premature. Patient advocates and scientists argue that the alternative to the drug is inevitable death without any therapy, and that this "questionable" drug is better than nothing. Debate continues following Eteplirsen's approval, and approval was only given contingent on follow up studies of efficacy to be performed.
The approval of Eteplirsen has been a momentous triumph for patient advocates. Not since the advocates of HIV/AIDS have we seen such a potent community of advocates for a particular disease. While facing immeasurable obstacles, their efforts certainly have been rewarded with the recent approval of Eteplirsen. Led by the PPMD and MDA, patients, families, scientists, and physicians have rallied around our boys to help find a cure for this devastating disease.
While this approval has caused a lot of excitement in the muscular dystrophy world, the first is certainly not over. In fact, eteplirsen only treats 13% of the DMD population, but the hope is that this approval may lead to approval of similar drugs, extending the treatment to a greater proportion of the population.
This is certainly something worth celebrating over, but is only a temporal victory. We still have a lot of research and work to do!
I'm a current MD-PhD candidate, working hard to help treat and manage muscular dystrophies