FDA and Clinical Trials Industry Experts Focus New Attention on Rare Disease Studies

With the recent launch of the U.S. Food and Drug Administration’s (FDA’s) Rare Disease Endpoint Advancement (RDEA) Pilot Program, the clinical research enterprise gains new support for efforts aimed at efficacy endpoint (or clinical outcome) development and the timely approval of drugs and biological products that treat rare diseases, including rare diseases in children.

This FDA action makes it all the more timely that several articles appearing in the forthcoming October 2023 issue of ACRP’s Clinical Researcher journal focus on various aspects of rare disease studies that many research professionals have seldom or never had to think about.

In his article on “Ensuring Timely, Secure Delivery of Therapies for Rare Diseases,” Dea Belazi, PharmD, MPH, President and CEO of AscellaHealth, notes that clinical trial teams are increasingly focused on the development of specialty drugs and cell and gene therapies to provide an estimated 300 million people worldwide with potentially lifesaving, curative treatment for the 7,000 known rare diseases.

“Today, there are [approximately] 200 clinical trials under way in Phase III targeting patients with rare, complex diseases who often face death, disability, or poor quality of life from lack of effective treatments,” Belazi writes. “As specialty drugs continue to be the main category in the FDA’s pipeline for new approvals as of mid-2023, and it has been projected that 13 new cell or gene therapies could be approved in the U.S., Europe, or both by the end of 2023, optimizing the supply chain must a priority throughout the pre-commercialization phase of drug development.”

Belazi goes on to examine how, among the myriad challenges to researchers are the unique requirements of these new, innovative therapies and the burdens tied to establishing protocols for flexible, agile supply chain logistics in support of their research and development. The need for risk management is paramount, he notes, given the multiple stakeholders involved in the supply chain.

Next up, in her article on “Pushing for Better Clinical Trial Design for Rare Diseases,” Haley Quinn, the Go To Market Director of Patient Engagement and Recruitment at Citeline, a Norstella company, asks readers to imagine a world where a rare disease diagnosis no longer spells a journey of uncertainty and pain. Instead, it begins a collaborative journey where patients, healthcare professionals, and researchers unite to uncover personalized solutions.

“In this world,” Quinn writes, “trial design isn’t constrained by rigid parameters; it flourishes in the realm of possibility, embracing the nuances of each patient’s experience.” She believes such an outlook is important because “[a]mid the consistent stream of medical breakthroughs and groundbreaking treatments making waves in the news, it’s all too common to inadvertently disregard the plight of millions living with rare diseases. These conditions, frequently concealed in obscurity, present intricate challenges that elude swift diagnosis and effective treatment. New research has highlighted the dire consequences of neglecting these conditions, pointing to the critical need for better trial design and patient engagement.”

Quinn goes on to explore the convergence of patient experiences, trial design, and collaborative endeavors poised to reshape the healthcare landscape, uncovering how the consideration of patients’ backgrounds, daily symptom management, and a holistic approach to trials can ignite transformative change. “The heart of revolutionizing trial design lies in collaboration,” she notes. “Pharmaceutical companies, advocacy groups, healthcare professionals, and patients must unite to drive change. The patient journey, fraught with uncertainties and challenges, becomes the compass guiding these collaborative efforts. The results can be remarkable when patients are empowered to actively participate in shaping their treatment paths.”

Meanwhile, the aforementioned FDA RDEA pilot program is designed for sponsors with an active investigational new drug (IND) application or pre-IND for a rare disease. It is also intended for sponsors who do not yet have an active drug development program but have, or are starting, a natural history study where they intend to examine the proposed endpoint. The pilot program will proceed through September 30, 2027, and sponsors were invited to submit proposals beginning July 1, 2023, through June 30, 2027.

For more information on FDA’s rare disease programs, visit here.

Edited by Gary Cramer