95 percent of rare diseases still lack an FDA-approved treatment. Here is how recent policy changes are reshaping the future of rare disease innovation.

Rare diseases affect an estimated 30 million Americans, yet the vast majority still have no FDA-approved treatment. During Rare Disease Week, we explore the policy landscape shaping the future of rare disease drug development, and what it could mean for patients and families. In this episode of the Making Medicine podcast, John Stanford sits down with Lisa Schlager of FORCE, Elaine Towle of the Prader-Willi Syndrome Association, and Josh Trent of the Save Rare Treatments Task Force. The panel discusses concerns raised by patient advocates and investors about how elements of the Medicare drug price negotiation framework may influence incentives for developing additional rare disease indications. The Orphan Cures Act is designed to strengthen incentives for developing treatments for rare diseases, particularly when a single therapy may benefit multiple small patient populations. By clarifying how certain medicines are evaluated under federal policy, the Act aims to support continued investment in rare disease research and help ensure that companies can pursue additional indications for conditions that might otherwise be overlooked. Rare disease drug development often requires long timelines, significant investment, and sustained collaboration across government, industry, and patient communities. Rare Disease Week serves as a reminder of the progress made, and the work still ahead, to ensure patients have hope for future treatments.

Join the Conversation
Do you believe the Orphan Cures Act went far enough to protect rare disease research? Should the Pediatric Priority Review Voucher program be made permanent? What rare disease policy reform should Congress address next? 

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Timestamps:
0:00 Rare Disease Week and disclaimer
0:43 Rare disease innovation, 30 million Americans
2:46 Hereditary cancer and rare genetic subtypes
7:36 Prader-Willi syndrome, hyperphagia and hypothalamus
11:14 First Prader-Willi FDA approval and Phase 3 pipeline
12:54 FDA patient focused drug development meetings
14:39 Save Rare Treatments Task Force and advocacy strategy
17:20 95% lack FDA treatments and pediatric rare disease stakes
21:05 Orphan Cures Act, IRA negotiation, second indications
26:17 PARP inhibitors, ovarian cancer and pancreatic cancer
33:01 Rare disease investment rebound after Orphan Cures Act
37:36 Pediatric PRV reauthorization and faster FDA review

DISCLAIMER: We’re reporting on the headlines, not making medical recommendations. For personal health questions, always consult a doctor.

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