We’re in a tumultuous time for Duchenne muscular dystrophy (DMD) treatment. Recently, the DMD community was outraged when the FDA rejected ataluren (Translarna), a promising new drug, for a disease that lacks a sufficient treatment.
DMD is a rare genetic disorder, that occurs when a mutation prevents an individual from producing the protein, dystrophin. This leads to worsening muscle weakness, and as the weakness spreads to respiratory and cardiac muscles, often death. To learn more about this rare disease, click here.
While this decision was disappointing to many, another hotly contested treatment decision was recently turned around. In 2016, Anthem, the US-based health insurer, refused to cover Sarepta Therapeutic’s new DMD drug, Exondys 51 (eteplirsen). Exondys 51 was the first FDA-approved treatment, but Anthem deemed it “investigational and not medically necessary” in their medical bulletin. It acts on the mutation that causes a DMD patient’s gene to skip exon 51, which is one of the causes of DMD.
It had been a controversial choice. Even within the FDA, opinions on the drugs effectiveness varied widely, which stirred up some agency drama. It’s true, Exondys 51 may not be the perfect medicine– it’s expensive, it’s trials showed some murkiness, and it doesn’t work on everyone with DMD. Still, when you, or someone you love, has a progressively debilitating disease like DMD, an imperfect drug might be your best shot.
Anthem just recently reversed this decision. The insurer announced will now cover Exondys 51, although they have some stipulations.
Anthem now considers Exondys 51 medically necessary for patient who:
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have a confirmed DMD diagnosis
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are still able to walk around, with or without a cane or walker
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have the specific mutation the drug was made to target
Only about 13% of DMD patients have specific genetic mutation in question. These criteria also exclude many patients, since DMD deteriorates a patient’s ability to walk.
New trials and further research might bring even better news. Sarepta is already starting trials on a new DMD treatment. For now, it’s heartening to see a new DMD treatment on the market.
