Bipartisan Legislation Seeks to Bridge Rare Disease and Regulatory Expertise at FDA

Rare Daily Staff

Bipartisan members of the Rare Disease Congressional Caucus have reintroduced legislation that would bridge the gap between rare disease expertise and regulatory expertise by holding regular scientific-focused drug development meetings at the U.S. Food and Drug Administration led by outside rare disease experts.

Congresswoman Doris Matsui (D-California), Congressman Gus Bilirakis (R-Florida), and Senators Amy Klobuchar (D-Minnesota) and Roger Wicker (R-Mississippi), co-chairs of the Rare Disease Congressional Caucus, sponsored the Scientific External Process for Educated Review of Therapeutics Act of 2025.

More than 90 percent of rare diseases have no FDA-approved treatment, and applications in the pipeline often face approval challenges. Because of their small populations, evaluating rare disease therapy effectiveness and safety requires different clinical approaches than those for the average medical product.

The legislation sponsors said the FDA reviewers often lack expertise in specific rare diseases, which hampers their ability to make informed decisions about applications. At the same time, rare disease experts, because of their involvement in research and clinical trials of rare disease therapies, often have conflicts of interest that prevent them from participating in FDA advisory committees.

They said the legislation bridges those gaps by allowing scientists and FDA reviewers to share their expertise and knowledge in a product-agnostic setting without compromising the integrity of the review process.

These quarterly meetings will provide an opportunity for enhanced collaboration between medical experts, drug sponsors, scientific organizations, and patient advocates to discuss the challenges impacting the development of rare disease treatments, identify scientific opportunities to facilitate development, discuss novel clinical trial designs, and align on endpoints to address unmet medical needs for rare disease patients. Each meeting will focus on a different rare disease topic, and the FDA will report annually on how these sessions are helping to shape and improve its internal review process for rare diseases.

Everylife Foundation for Rare Diseases, Speak Foundation, the Rare Disease Company Coalition, the National Organization for Rare Disorders, and Global Genes (the publisher of Rare Daily) have endorsed the legislation.

“We are in an unprecedented moment of attacks on science. Now, more than ever, it’s critical to ensure scientists’ voices are being heard and trusted at the agencies which make our critical health care decisions,” said Congresswoman Matsui. “We need more formalized processes for engagement to balance the urgent needs of rare disease patients, who overwhelmingly lack treatment options, with the mission of the FDA, to ensure every medication in American families’ drug cabinets is safe and effective.”