As many as 30 million Americans may be living with a “rare disease,” officially defined as a condition affecting fewer than 200,000 people.
The Genetic and Rare Diseases Information Center says there are some 7,000 known rare diseases. Most are genetic. Only about 10% of all rare diseases have an approved treatment.
To hasten the development of drugs and therapies, the Food and Drug Administration in 2019 began an initiative to “to facilitate a cooperative approach and common standardized platforms to better characterize rare diseases, incorporate the patient’s perspective in clinical outcome assessment measures, and build clinical trial readiness in the pre-competitive space.”
Dubbed the Rare Disease Cures Accelerator, the initial focus of the program is building “an integrated database and analytics hub designed to promote the secure sharing of existing patient-level data and encourage the standardization of new data collection.”
A second key part was to award grants “develop standard core sets of clinical outcome assessments (COAs) and endpoints for specific disease indications.”
In May, the FDA asked for input from industry, rare disease organizations, patients and others regarding the “implementation and sustainment of global clinical trials networks.”
“As drug development for rare diseases can be challenging due to the small number of patients and limited understanding of the variability and progression of the diseases, the FDA is committed to developing bold new approaches to harness the infrastructure of global clinical trial networks,” said Anand Shah, FDA deputy commissioner for medical and scientific affairs.
A recent report on Regulatory Focus, the website of the Regulatory Affairs Professionals Society, said the stakeholders who commented “called for regulatory clarity, smart use of existing resources, and a move toward harmonized trial standards and assessments.”
Several comments addressed the need to ensure the quality of the data collected as well as reducing and eliminating some of the challenges unique to rare disease trials.
On behalf of the Biotechnology Innovation Organization, Danielle Friend, senior director of science and regulatory affairs, said the networks need to support “the collection of high-quality data that are endorsed by the agency for regulatory decision-making.” She said a rare disease network must recognize and address “heterogeneity in rare diseases, lack of harmonization among global regulators in rare disease regulatory policy, and current inconsistencies in clinical trial network operation.” The FDA plan also should consider combining rare diseases into a single trial when possible.
The National Organization for Rare Diseases echoed those comments, and, according to Regulatory Focus, said “Increased collaboration and a focus on increasing the speed and success of clinical trials can have the effect of ‘breaking down the silos of activity currently taking place in rare disease research.’”
Now the FDA will analyze the comments, incorporating them into a development plan for its trials networks program. No timeline was given for this phase of the program.