Bilirakis and Matsui File Legislation to Improve Drug Development Process for Rare Disease Patients

Washington, DC: Representatives Gus Bilirakis (R-FL) and Doris Matsui (D-CA) have filed the Scientific External Process for Educated Review of Therapeutics (EXPERT)Act. This bill requires the FDA to establish externally-led science-focused drug development meetings targeting rare diseases. Over 90% of rare diseases have no FDA-approved treatment. One driver is the difficulty for overworked FDA staff to delve into specific rare diseases, especially given that FDA review divisions are grouped based on general anatomy. Meanwhile, rare disease experts often have conflicts of interest preventing them from serving on FDA advisory committees. This legislation seeks to bridge the gap between rare disease expertise and regulatory expertise by formalizing the Externally-Led Scientific-Focused Drug Development (EL-SFDD) meeting at FDA. 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've repeatedly seen that tangible progress can be achieved when all stakeholders are brought together and united in a common purpose to share information, brainstorm and develop solutions," said Congressman Bilirakis. "It is important that we use this same approach when tackling the challenges facing the rare disease community and our bipartisan legislation is the first step in making that happen. I am eager to see the positive results that enhanced collaboration will yield and I urge my colleagues to join me in expediting passage of this important bill."

"I am grateful for the steps the FDA has taken to advance their engagement with rare diseases, but there is more work to be done to ensure every rare disease patient has the hope of a successful therapy," 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."

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 of the 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 and Congressman Bilirakis 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 2024, 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 of 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, and the Rare Disease Company Coalition.

Full text of the bill is available HERE.