MATSUI, BILIRAKIS, KLOBUCHAR, WICKER INTRODUCE LEGISLATION TO IMPROVE ALIGNMENT AND COORDINATION AT FDA FOR RARE DISEASE THERAPIES

WASHINGTON, D.C. – Congresswoman Doris Matsui (D-CA-07), Congressman Gus Bilirakis (R-FL-12), and Senators Amy Klobuchar (D-MN) and Roger Wicker (R-MS), co-chairs of the Rare Disease Congressional Caucus, reintroduced the Scientific External Process for Educated Review of Therapeutics (EXPERT) Act of 2025, legislation to formalize the Externally-Led Scientific-Focused Drug Development (EL-SFDD) meeting at the Food and Drug Administration (FDA).
Over 90% of rare diseases have no FDA-approved treatment, and applications in the pipeline often face challenges with approval. Evaluating rare disease therapy effectiveness and safety requires different clinical approaches than those for the average medical product, because of the small populations. Complicating this, FDA reviewers often lack expertise in specific rare diseases, hampering their ability to make informed decisions about applications. Meanwhile, rare disease experts often have conflicts of interest preventing them from participating in FDA advisory committees, due to their involvement in research and trials for rare disease therapies. This 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.
This legislation seeks to bridge the gap between rare disease expertise and regulatory expertise through the EL-SFDD. 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.
“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. My Scientific EXPERT Act will bring rare disease experts and FDA reviewers together to share their knowledge and have productive conversations about how to move rare disease therapies forward.”
“More than 30 million Americans live with a rare disease, yet there is no treatment for 95 percent of rare conditions,” said Senator Klobuchar. “Our bipartisan bill would help find cures and save lives by supporting more collaborative rare disease research and encouraging communication between our country’s first-ever Rare Disease Innovation Hub, patients, and scientists.”
“Congress can’t discover cures for rare diseases, but we should support those who can,” said Senator Wicker. “Creating the FDA Rare Disease Hub was a great step forward. The EXPERT Act takes the next step. The bill would help the FDA bring together the brightest in academia and industry. Ultimately, that collaboration would be cause for hope for those who have been waiting so long for treatments and cures.”
Patients, as well as health care providers, physicians, and non-profit organizations, are applauding the introduction of this legislation.
“While significant progress has been made in developing therapies to treat the estimated 30 million Americans living with rare diseases, the reality is that 95% of rare disease communities lack any FDA approved treatments and significant unmet needs remain for those that do have an approved treatment. The Scientific EXPERT Act will bring together experts to facilitate pre-competitive scientific and regulatory science conversations, enabling the implementation of a formalized forum for addressing clinical and regulatory challenges impacting the development of rare disease therapies. We are proud to support legislative efforts aimed at solving for surmountable barriers and catalyzing therapy development for our rare disease community,” said Annie Kennedy, Chief of Policy, Advocacy & Patient Engagement, EveryLife Foundation for Rare Diseases.
"Across the rare disease space, we have seen tremendous progress in scientific and medical innovation that has the potential to improve the lives of the 1 in 10 Americans living with a rare disease,” said Stacey Frisk, Executive Director, Rare Disease Company Coalition. “However, the FDA faces hurdles that limit its ability to incorporate disease-specific expertise throughout the development and review process, meaning patients are not getting desperately-needed treatments fast enough. The Rare Disease Company Coalition applauds Congresswoman Matsui, Congressman Bilirakis, Senator Klobuchar and Senator Wicker for their leadership to ensure the availability of timely and specific expertise that we need to create new treatments for the rare disease community. We are proud to endorse the Scientific EXPERT Act of 2025, and urge Congress to support this critical bill."
“Global Genes recognizes that multi-stakeholder input including Rare Disease patients and caregivers is essential to the advancement of scientific progress for rare disease treatments,” said Charlene Son Rigby, Chief Executive Officer, Global Genes. “The Scientific EXPERT Act will establish an important pre-competitive mechanism to provide greater clarity and build consensus among patients, researchers, sponsors and the FDA on novel approaches and evidence standards to accelerate the development of effective rare disease therapies.”
This legislation is endorsed by: Everylife Foundation for Rare Diseases, Speak Foundation, Global Genes, the Rare Disease Company Coalition, and the National Organization for Rare Disorders.
Full text of the bill is available HERE.
Congresswoman Matsui has been a longtime advocate for the rare disease community and serves as co-chair of the bipartisan, bicameral Rare Disease Congressional Caucus. She leads the BENEFIT Act, which would provide patients and patient advocates with the ability to play a larger role in the Food and Drug Administration’s (FDA) benefit-risk framework for drug approval. She also leads the PROTECT Rare Act, which would support patients with rare and ultra-rare diseases in getting evidence-based, medically necessary care covered by their health insurance.
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