To Give Rare Disease Patients Hope, the FDA Must Re-Focus its Efforts

With over 7,000 rare diseases affecting more than 30 million people in the United States, the tight-knit community of rare disease patients, providers, researchers, and peer groups is incredibly supportive, but the regulatory environment has been much less so. It has long been divided by disease-specific research and treatment silos, and most clinical research is disease-specific without overlap or input from other experts in related fields. This fragmented lack of knowledge-sharing across varying rare diseases often results in duplicated efforts, wasted resources, and slower progress. These silos hinder the potential for advancements in treatment discovery for rare diseases.

Despite legislation aimed at accelerated review processes and regulatory flexibility for rare diseases, a staggering 95% of rare diseases still lack FDA-approved treatments. Rare disease clinical research programs are already disadvantaged by small populations, geographic diversity, and young patients, creating challenges for inclusion in studies. Rare disease patients often face delays in receiving a diagnosis, preventing them from enrolling in clinical trials. Even when promising drug candidates have been developed and researched, the FDA’s stovepiped offices between different specialties and bodily systems are not optimized for review. Rare diseases are often multifactorial and impact many parts of the body, leading to inconsistent FDA review approaches. Ultimately, this disincentivizes investment in new therapies, an outcome nobody wants.

To bring cross-agency clinical leaders together, the FDA should establish a Center of Excellence for Rare Diseases. This would bring together specialized staff and resources from multiple review divisions to leverage their expertise about different bodily systems, trial designs, pharmacology, and other specialized fields. While no two patients or rare diseases are identical, we as rare disease communities are greatly united by the hope that one day all patients will have treatments and cures.

The 21st Century Cures Act, signed into law in 2016, granted the FDA the authority to establish Centers of Excellence, also sometimes referred to as Intercenter Institutes, to focus on specific disease issues and states. Centers of Excellence facilitate expedited clinical research review, streamlining drug approval decisions and organizing FDA resources, including clinical trial experts, regulatory scientists, and statisticians, into a single structure. Already, the FDA has created several successful Centers of Excellence, including one for cancer care, which have effectively brought resources together and created a new review paradigm.

The establishment of a Center of Excellence for Rare Diseases would benefit rare disease communities like our own by simultaneously integrating new therapeutic approaches, therapies, and diagnostics into disease research. Serving as a central hub, a Center of Excellence would provide regulatory flexibility for patients with diverse rare diseases, symptoms, and treatment outcomes. We must move beyond the current rare disease research silos to foster a more collaborative environment with a multi-disciplinary, community-overlapping approach to provide faster, comprehensive treatment development efforts for all those with rare diseases, thereby allowing for greater support, capacity, and stakeholder engagement.

The rare disease community is united in its call for a Center of Excellence for Rare Diseases. And we are pleased that we have high level support: recently, bipartisan lawmakers have raised their voice in support, and FDA Director of the Center for Biologics Evaluation and Research (CBER) Peter Marks supported the establishment of a Center of Excellence for Rare Diseases during a recent congressional hearing and a global meeting of life science leaders. We urge other FDA stakeholders and legislators to help facilitate the establishment of a Center of Excellence, which should be led by a single director dedicated to accelerating treatment discovery and development for rare diseases.

The percentage of approved treatments is still far too low; the rare disease community deserves a future of optimism and hope. We can streamline the clinical research process and uncover groundbreaking treatments by establishing a Center of Excellence and harnessing cross-functional resources, benefiting current patients and paving the way for future advancements in rare disease treatment success.

Photo: Peshkova, Getty Images

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