Acting FDA commissioner pledges to prevent political interference in rare disease meeting

Global Genes was honored to be invited by the FDA to participate in a closed roundtable discussion with FDA leadership on Wednesday, June 3.

At a recent meeting dedicated to shaping the priorities for the FDA’s rare disease-focused programs, Karmen Trzupek, Senior Director of Scientific Programs shared vital insights on how to transform data collection and clinical trials for the rare disease community.

After acknowledging the critical collaboration between Global Genes and RARE-X, Karmen commended the FDA’s extensive work over the past year to actively interact with rare disease advocacy communities and provide much-needed guidance.

Karmen provided her thoughts on Priorities for the Agency to Consider:

• Patients are the ones who generate historical datasets, including registries and natural history studies. But traditional natural history studies are too expensive for communities, too burdensome for families, and have dropout rates as high as 1 in 3 — making them largely inaccessible for most rare diseases.
• We have a shared obligation to make data generation scalable, predictable, and “worth it” for families. That means we need better FDA guidance about flexible and hybrid models for natural history data collection.
• The same logic applies to endpoints. Fit-for-purpose, faster pathways for rare disease endpoint qualification need to become the norm, not the exception. And they MUST include composite endpoints explicitly designed for slowly progressive diseases.
• If we could create a shared infrastructure here… that would reduce cost, break the precedent paradox, and enable trials that measure what matters to patients.