The Myhre Syndrome Foundation has joined more than 160 rare disease advocacy organizations in supporting a petition for rulemaking submitted to the U.S. Food and Drug Administration by the Haystack Project.
Haystack Project is a nonprofit coalition that gives rare and ultra-rare disease advocacy organizations a collective voice on systemic issues in healthcare policy. They work on the kinds of problems that affect the entire rare disease community with a particular focus on the need for regulatory changes.
Currently, the FDA's default expectation for drug approval is a randomized controlled trial. In practice, this usually means dividing patients into separate groups, often with one group receiving a placebo, and enrolling enough people in each group to produce a statistically reliable result. That design works well for conditions affecting thousands or millions of people, but for a disease like Myhre Syndrome, where the entire diagnosed population worldwide may be in the hundreds, there often aren't enough patients to fill even one study arm, let alone divide them further. For a disease this rare, that standard is essentially impossible to meet.
The petition asks the FDA to formalize a more flexible, context-driven approach that matches study design, endpoints, and evidence standards to the realities of the disease being studied. It also asks the FDA to formally recognize the role of disease-specific expertise in shaping how evidence is evaluated. It recognizes that for ultra-rare diseases, the clinicians and researchers who specialize in that condition are often the only people in the world with the knowledge needed to design a meaningful study.
One of our core missions is building the clinical readiness infrastructure that a future trial would require by gathering natural history data, validating endpoints, pioneering wearable data monitoring, and finalizing a disease concept model. But this data can only lead to treatments when there is a regulatory framework that can accommodate what a Myhre trial would actually look like. This petition asks the FDA to build that flexibility into the rules, not leave it to case-by-case negotiation.
We're proud to stand alongside the rare disease community to petition for a better chance to develop approved, rigorously evaluated treatments. Learn more about the Haystack Project