FDA launches innovation hub to spur rare disease R&D

The FDA has said it will create a rare disease innovation hub to help speed the development of new treatments and build connections between developers and the rare disease community.

The hub will focus in particular on diseases that affect very small patient populations and those where the disease mechanisms are not fully understood, according to the US regulator. It will be co-led by Patrizia Cavazzoni, director of the FDA's Centre for Drugs Evaluation and Research (CDER), and Centre for Biologics Evaluation and Research (CBER) director Peter Marks.

In a joint statement, Cavazzoni and Marks noted that more than half of all the novel drugs and biologics approved by the FDA last year were to prevent, diagnose or treat a rare disease or condition.

The FDA is also planning to recruit an associate director for rare disease strategy who will manage the "new joint integrated model between CDER and CBER" underpinning the hub, according to an advertisement (PDF) posted on the agency's website.

"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," according to Cavazzoni and Marks.

"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," they said.

The hub will have three primary functions, headlined by acting as a single point of connection with patient and caregiver groups, trade organisations, and scientific and academic groups, and as a forum to explore how drugs, biologics, medical devices, diagnostics, and combination products could be developed and deployed.

It will also 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. Finally, it will look at novel endpoints, biomarkers, innovative trial designs, real-world evidence, and statistical methods, to see how they can fit in with regulatory processes.

The announcement follows several years of lobbying by the rare disease community for a dedicated centre at the FDA, and the regulator has said it intends to hold an open meeting and open a comment period later this year to give additional information on the hub and hear feedback to help shape its work.

The National Organisation for Rare Disorders (NORD), in a post on X.com, said the FDA's move is "an exciting milestone for millions of Americans in the rare disease community."

It is estimated there are more than 10,000 rare diseases affecting more than 30 million people in the US, with about half of the cases involving children.