Don't close the door on rare disease research

There is a great need for continued incentives for rare disease drug development, as development for rare diseases takes nearly four years longer than for non-rare disease conditions.

Michael Ybarra, M.D.November 13, 2023
Medical syringes in lab with liquid bubbles forming on ends

Don't close the door on rare disease research.

Across the world, 400 million people are impacted by rare diseases, yet less than 10% of the 7,000 known rare diseases have available treatments. With more than 700 medicines for rare diseases in the current drug development pipeline, biopharmaceutical companies and researchers are actively innovating to address serious unmet medical needs for patients.

I recently spoke with Dr. Peter Marks, Director of the Center for Biologics Evaluation and Research of the U.S. Food and Drug Administration (FDA); Susan Marx Mashni, Senior Vice President and Chief Pharmacy Officer of Mount Sinai Health System; and Megan Nolan, CEO and Co-Founder of the Children’s Rare Disorders Fund, at Bamberg Health’s 2023 North America Rare Disease Summit to discuss the outlook of this meaningful work.

We discussed the importance of the Orphan Drug Act (ODA) which is crucial in incentivizing rare disease R&D. Specifically, the ODA provides important targeted incentives to encourage companies to embark on and help protect investments in the necessary but risky research needed for rare disease drug development. Since the enactment of the ODA forty years ago, the FDA has approved nearly 1,200 orphan drugs, in contrast to fewer than 10 medicines for rare diseases in the preceding decade. In 2022 alone, more than half of the novel new treatments approved by the FDA were for rare diseases.

There is a great need for continued incentives for rare disease drug development, as development for rare diseases takes nearly four years longer than for non-rare disease conditions, and orphan drugs have an estimated 6% success rate in clinical trials. But government price-setting provisions included in the Inflation Reduction Act (IRA) and undermining of the accelerated approval pathway threaten this crucial innovation and undermine its success.

While the IRA does provide a narrow exemption from price setting for medicines with a single orphan designation and indications only within that designation, the IRA’s price-setting provisions:

  • Discourage R&D of potential additional orphan designations and indications, including post-approval R&D, which is where significant advances occur often for rare disease medicines
  • Undermine the ODA incentives for developing new treatments, threatening continued progress
  • Force companies to rethink their R&D pipelines, including their investment in medicines for rare diseases

To ensure that rare disease R&D continues to be prioritized, CMS should interpret the existing provisions in the IRA's orphan drug exemption in a way that would better preserve incentives for orphan drug R&D. Policymakers should also consider policy proposals that would amend the IRA to more effectively preserve the incentives for R&D in orphan and rare diseases. Protecting these incentives allows biopharmaceutical companies to continue pursuing high-risk, resource-intensive research and development to produce groundbreaking innovations for patient communities impacted by rare diseases.

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