Reflection on 2/23 HHS Panel on Innovation on Rare Disease Therapies

By Luke Sharon

In a political era where public funding is more often questioned than defended, funding for research on rare diseases, advancements, and clinical trials has unfortunately been sidelined, perhaps because it has been seen as too politically invisible to warrant persistent governmental focus. I had the opportunity to attend a panel on innovation in rare disease therapies hosted by the Department of Health and Human Services as a representative of Team Telomere. The panel suggested that this may be shifting.

The panel intended to vocalize the discontent shared by the millions of Americans impacted by rare diseases, as well as a promise of a “Plausible Mechanism Pathway” that would allow a fast track for bespoke therapies and medicines for rare diseases (including TBDs) without excessive regulation on the companies developing solutions.

Marty Makary, commissioner of the Food and Drug Administration, reflected the tone of the panel when he said, “rare diseases aren’t really that rare,” citing that “30 million Americans” have a rare disease – and I think that was the point of the event (as well as its tone): a public display of this administration recognizing the vastness of this issue.

For the most part, the “Plausible Mechanism Pathway” remains undefined; we don’t know how much it will speed up effective therapies or shorten the diagnostic odyssey – and, to be honest, it seemed like no one on the panel did either – but it is trying to promote development. HHS Secretary Kennedy said that he wanted things approved and federally supported on the basis of “when biology is clear and the science is sound,” and if, through that mentality, the FDA can approve even just one therapy or drug that otherwise would not have been approved or would have been stuck in administrative hell – and it saves a life – then I think it is a good thing…