RELEASE: Gottheimer Urges FDA to Establish Clear Standards for Rare Disease Status

WASHINGTON, DC — U.S. Congressman Josh Gottheimer (NJ-5), Founder and Co-Chair of the Congressional Sarcoidosis Caucus, and thirty-eight of his colleagues sent a bipartisan letter to the U.S. Department of Health and Human Services Secretary Robert F. Kennedy Jr. and U.S. Food and Drug Administration Commissioner Marty Makary urging the agencies to establish clear, consistent standards for defining rare disease patient populations. 

“When 95 percent of rare diseases do not have cures, we cannot risk discouraging innovation in areas where scientific progress is rapidly outpacing regulatory adaptation,” the letter reads. “These challenges are not merely technical — they have real implications for patients… This means if the FDA considers prevalence rate with the higher estimate as the prevailing rate, diseases like Sarcoidosis are no longer capable of receiving crucial rare disease funding to find cures even though the patient population that needs treatment is well below the current FDA standard for rare.”

The letter raises concerns about the lack of clear, consistent FDA standards on how patient populations should be defined, how prevalence should be measured, and what evidentiary standards sponsors must meet. Advances in genomics and precision medicine are enabling researchers to identify increasingly specific disease subtypes, but the FDA has no clear roadmap for how to characterize those populations in regulatory submissions. The letter warns that this uncertainty can lead to unpredictable regulatory outcomes and discourage investment in therapies for small or complex patient populations.

This lack of clarity is already causing harm. Diseases like sarcoidosis, multiple myeloma, Charcot-Marie-Tooth disease, and pulmonary hypertension — serious, often life-altering conditions — risk losing rare disease status depending on how patient populations are counted. For example, while some estimates place sarcoidosis prevalence just above 200,000, only about 60,000 patients actually require treatment. If the FDA relies on the higher estimate, diseases like sarcoidosis could lose access to rare disease-specific research funding and incentives, even though the population that needs treatments is well below the 200,000-person threshold.

The lawmakers urge HHS and the FDA to:

• Establish standardized definitions for how patient populations are delineated, including the role of genetic, biomarker, and clinical criteria.
• Issue clear guidance on acceptable methodologies for calculating and submitting prevalence data, including preferred data sources, timeframes, and analytic approaches.
• Outline how real-world data and registry-based studies should be incorporated into regulatory submissions.
• Provide greater transparency into how population definitions and prevalence estimates are evaluated during review.
• Clarify the role of treatment-eligible patient populations in determining rare disease status.
• Engage patient groups, researchers, and industry to develop consensus-driven best practices for population identification and data submission.

The letter is co-signed by Reps. Jake Auchincloss (D-MA), Don Bacon (R-NE), Nanette Díaz Barragán (D-CA), Wesley Bell (D-MO), André Carson (D-IN), Yvette Clarke (D-NY), Steve Cohen (D-TN), Jim Costa (D-CA), Danny Davis (D-IL), Don Davis (D-NC), Madeleine Dean (D-PA), Brian Fitzpatrick (R-PA), Lois Frankel (D-FL), Maggie Goodlander (D-NH), Adam Gray (D-CA), Adelita Grijalva (D-AZ), French Hill (R-AR), Jim Himes (D-CT), Jonathan Jackson (D-IL), Hank Johnson (D-GA), Ro Khanna (D-CA), Darin LaHood (R-IL), Mike Lawler (R-NY), Stephen Lynch (D-MA), Sarah McBride (D-DE), Max Miller (R-OH), Kelly Morrison (D-MN), Seth Moulton (D-MA), Jimmy Panetta (D-CA), Mark Pocan (D-WI), Linda Sánchez (D-CA), Eric Sorensen (D-IL), Darren Soto (D-FL), Tom Suozzi (D-NY), Shri Thanedar (D-MI), Rashida Tlaib (D-MI), and Debbie Wasserman Schultz (D-FL).

“The letter builds on Gottheimer’s longstanding work on sarcoidosis and rare diseases. He has led an annual bipartisan appropriations letter urging research funding for sarcoidosis through the National Heart, Lung, and Blood Institute (NHLBI),  founded the Bipartisan Congressional Sarcoidosis Caucus, and has met with patients, advocates, and leading medical professionals from across New Jersey to discuss the disease. Importantly, Gottheimer secured language in the Fiscal Year 2027 Labor, Health and Human Services, and Education appropriations bill that passed out of committee this year. The language encourages the NHLBI to advance research into sarcoidosis — the first-ever mention of the disease in this appropriations bill. For the sarcoidosis community, this is not just an abstract regulatory debate. It is about whether patients will have access to the treatments and research they desperately need in the future. Estimates put sarcoidosis prevalence at just over 200,000, but only about 60,000 patients are currently estimated to require treatment. At the same time, we know sarcoidosis is frequently misdiagnosed or goes undiagnosed, particularly for patients who lack access to specialists either geographically or financially, who recognize the disease. If FDA and HHS rely on inconsistent methodologies or incomplete data to define these populations, they risk overlooking the very patients who need greater investment in research and treatment. The treatment eligible population, and the patients who have yet to be diagnosed, must be part of this conversation. We sincerely thank Representative Gottheimer for leading this effort and for recognizing the need for clear, consistent, science based standards that accurately reflect the realities facing patients with rare diseases like sarcoidosis,” said Saul Kuciauskas, Vice President and Board Chair, Life & Breath Foundation.

“Foundation for Sarcoidosis Research (FSR) is grateful to Representative Josh Gottheimer and the Sarcoidosis Congressional Caucus for your extraordinary leadership. Sarcoidosis has been a largely neglected and underfunded disease. Complicated rare diseases, like sarcoidosis, require thoughtful engagement with the FDA and the NIH to ensure that drug development and research advance in a way that meets the real-world needs of the community. In short order, the Sarcoidosis Caucus has taken bold steps to clear the path to a brighter future for all impacted by sarcoidosis,” said Mary McGowan, President and CEO of FSR.

Gottheimer, a Rare Disease Caucus member, is also leading Gwenn’s Law, which would increase the number of women in NIH clinical research trials to help drive treatments and cures for rare diseases, and Cameron’s Law, which would restore the Orphan Drug Tax Credit to support rare disease drug development. 

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