The Reagan-Udall Foundation for the FDA, in collaboration with FDA’s Center for Devices and Radiological Health, is gathering insights from patients and advocates, clinicians, researchers, regulated industry, and government partners about unmet needs in rare disease diagnostics. Rare diseases affect an estimated 30 million Americans, and many patients go through a long diagnostic odyssey of delayed diagnoses, misdiagnoses, or missed diagnoses. Using cardiology and neurology as use cases, the project intends to identify gaps in the diagnostics landscape and opportunities to match development efforts with clinical needs and patient preferences. The findings will be summarized in a publicly disseminated report aimed at helping prioritize and advance future diagnostics development efforts.
This effort was funded by the U.S. Food and Drug Administration, Center for Devices and Radiological health, under FDA contract 75F40126C00214.