A milestone in the treatment of Duchenne muscular dystrophy (DMD) passed recently with remarkably little public notice. That silence is a sign of progress.
For years, advances in DMD arrived with fanfare because they were rare and precarious: the first exon-skipping drug, the first gene therapy, the first approval of anything beyond steroids and supportive care. Each was treated as a singular wager—scientific, regulatory, and moral—on whether modern medicine could alter a devastating childhood disease.
A recent study shows that the availability and combined use of these treatments can turn a fatal disease into a chronic, manageable condition.
EMBARK, a long-term follow-up study of boys with DMD who received microdystrophin gene therapy, found that after three years, restoring dystrophin meaningfully preserved muscle integrity, slowed functional decline, and demonstrated durability—outcomes that matter in a relentlessly progressive disorder.
DMD care is becoming layered. Dystrophin restoration addresses the root cause. Injury-reduction and anti-inflammatory strategies limit ongoing damage. Cardiopulmonary therapies preserve vital organs. Supportive interventions amplify the benefit of each component.
Families have recognized progress in these terms long before the FDA was willing to measure it. Now, early detection is part of this story. HHS Secretary Robert F. Kennedy Jr. recently added DMD to the Recommended Uniform Screening Panel, reflecting a national commitment to earlier diagnosis so treatment can begin before irreversible loss.
EMBARK should be understood not as a verdict on a single product, but as validation of a broader therapeutic paradigm. It should be seen as a way forward to other gene therapies for rare conditions.
The Food and Drug Administration deserves credit for recognizing that mechanism matters in DMD. It has accepted dystrophin restoration as a surrogate endpoint because decades of biology and natural history data link that mechanism to downstream function and survival. That judgment was not leniency; it was scientific realism.
But the agency has been far less consistent elsewhere. In multiple cases involving cell and gene therapies for rare, progressive diseases, programs showing durable biological activity and early clinical benefit have been—often suddenly and without explanation—delayed or sidelined after missing short-term endpoints poorly suited to long-term decline—despite a strong mechanistic rationale and unmet need.
Many products are pulled right after the FDA has all but assured approval. The risk is that therapies with the same kind of promise now evident in Duchenne are penalized not for failing patients, but for failing to conform to what appears to be the FDA’s arbitrary reasons or outcomes.
In such cases, the agency insists on new randomized trials, but conducting placebo studies in children with rare conditions is both challenging and often unethical. Moreover, moving the goalposts in a seemingly capricious manner undermines the trust among the FDA, innovators, and patients that has enabled progress against rare diseases.
Rare diseases don’t fit tidy endpoints or short timelines. Judge them by snapshots, and innovation will wither; judge them by years of function preserved, and it will surge.
That isn’t a lowering of standards. As the progress against DMD shows, it is the only standard that works.
Mr. Goldberg is Vice President of the Center for Medicine in the Public Interest.
Read Full Article »