The U.S. Food and Drug Administration (FDA) has significantly expanded its support for rare disease research, allocating approximately $27 million in grants and establishing a new innovation hub to accelerate treatment development for conditions affecting millions of Americans.
FDA Commits $17.2 Million to Rare Disease Clinical Trials
The FDA has awarded seven new clinical trial grants under its Orphan Product Grants Program for fiscal year 2024, committing approximately $17.2 million over the next four years. These grants target critical unmet needs across various rare disease categories, including a treatment for Cushing's syndrome, two therapies for blood disorders, two cancer treatments, a treatment for lymphatic malformations, and a gene therapy for an inherited eye disease.
In addition to the clinical trial funding, the agency has allocated approximately $4.7 million over four years for three natural history studies under the same program. These studies will advance understanding of disease progression in intestinal failure in children, an inherited polycystic kidney disease, and congenital hypoventilation syndrome.
"There is little knowledge on the progression of many rare diseases, which makes medical product development challenging," explained Sandra Retzky, Director of the FDA's Office of Orphan Products Development. "These new natural history studies will help address knowledge gaps in support of future clinical trials."
Funding for Rare Neurodegenerative Disease Research
The FDA has also announced over $5.4 million in funding to support clinical research under the Rare Neurodegenerative Disease (RNDD) Grants Program for fiscal year 2024. From 15 applications, the agency funded one new grant of approximately $5 million over four years to develop retinal imaging biomarkers for individuals affected with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy).
An additional $4.1 million has been allocated to nine ongoing studies supporting research on ALS and other rare neurodegenerative diseases, including Niemann-Pick disease type C, myotonic dystrophy type 1, and familial dysautonomia. This funding comes shortly after the FDA's approval of Zevra Therapeutics' Miplyffa in September, the first medicine approved for Niemann-Pick disease.
"The FDA remains committed to supporting medical product development for all rare neurodegenerative diseases," Retzky stated. The agency has issued a new funding opportunity for research in rare neurodegenerative diseases for fiscal year 2025 to continue advancing these goals.
New Rare Disease Innovation Hub
In a significant structural development, the FDA has announced the creation of a rare disease innovation hub designed to accelerate treatment development and strengthen connections between developers and the rare disease community. The hub will focus particularly on diseases affecting very small patient populations and those with incompletely understood disease mechanisms.
The initiative will be co-led by Patrizia Cavazzoni, director of the FDA's Centre for Drugs Evaluation and Research (CDER), and Peter Marks, director of the Centre for Biologics Evaluation and Research (CBER). The agency is also recruiting an associate director for rare disease strategy to manage the new joint integrated model between these centers.
"While there have been important advances in treatments for rare diseases, more needs to be done. Many rare diseases lack treatment options, and therefore, many patients have high unmet medical needs," Cavazzoni and Marks stated in a joint announcement. "We see huge potential in establishing a new model, within the FDA, to leverage cross-agency expertise and greatly enhance our inter-centre connectivity to spur the development of treatments for rare diseases."
Hub Structure and Functions
The innovation hub will serve three primary functions:
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Act as a single point of connection with patient and caregiver groups, trade organizations, and scientific and academic groups, while providing a forum to explore how drugs, biologics, medical devices, diagnostics, and combination products could be developed and deployed.
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Address common scientific, clinical, and policy issues related to rare disease product development, including regulatory reviews, to develop an integrated approach for drugs and biologics.
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Explore novel endpoints, biomarkers, innovative trial designs, real-world evidence, and statistical methods to enhance regulatory processes.
The National Organisation for Rare Disorders (NORD) has described the FDA's move as "an exciting milestone for millions of Americans in the rare disease community." With more than 10,000 rare diseases affecting over 30 million people in the US—approximately half being children—this initiative represents a significant step toward addressing substantial unmet medical needs.
The FDA plans to hold an open meeting and comment period later this year to provide additional information on the hub and gather feedback to help shape its work.
