FDA Rare Disease Day: Collaboration begins with patients

Regulatory NewsRegulatory News | 05 March 2021 |  By 

Dr. McCormack

A few ingredients are essential to advancing therapies for rare diseases: organized patients, the involvement of academic researchers, and support and flexibility from the US Food and Drug Administration and industry. That’s according to Frank McCormack, MD, professor of medicine at the University of Cincinnati.

“It begins with the courage and resolve of patients. The patients had the foresight to organize, and facilitate and fund research, and then they lined up for trials,” McCormack said, describing the success of efforts to find a therapy for the rare lung disease lymphangioleiomyomatosis (LAM).  

McCormack and other representatives from industry, academia, patient groups, and the FDA spoke at the agency’s 2021 Rare Disease Day virtual public meeting, highlighting successful collaborations in the development of drugs and devices to address rare diseases.

McCormack reviewed the collaborative efforts that ultimately led the FDA to approve a new indication for sirolimus to treat LAM in 2015, and additional approvals for the indication in more than 40 countries. A lot of the credit is due to the LAM Foundation, he said, which funded critical pre-clinical research, organized patients and encouraged them to participate in subsequent clinical trials.

“Pharma becomes interested when the target is biologically plausible and promising, and the patients are organized so that the studies can be done,” he said. “Until that happens, it’s very difficult for pharma to engage.”

A grant from the National Institutes of Health to establish the Rare Lung Disease Consortium also helped. The consortium included researchers and clinics around the world and followed about 3,600 LAM patients, as well as other patients with rare lung diseases.

McCormack, the group’s co-principal investigator, also praised the FDA’s help in demonstrating a path for approval of sirolumus based on a positive randomized controlled trial. “We had a lot of help from the FDA,” he said.

Sally Seymour, MD, director of the division of pulmonology, allergy, and critical care at the FDA’s Center for Drug Evaluation and Research (CDER), said the agency can help at many stages by providing feedback on what data they need to consider, as well as holding patient-focused drug development meetings.  

She also stressed the importance of stakeholders coming together in an organized way. “Sometimes efforts in a certain disease area, from our perspective, seem scattered,” Seymour said. “Sometimes bringing those folks together to combine their efforts would be more efficient and we may suggest that some of these stakeholders actually work together.”

The FDA is taking the same approach on the device side.

“There’s obviously a huge need for us to actually work together and leverage the comparative advantages of so many stakeholders in the ecosystem to be able to address these long-standing public health needs in rare diseases and in pediatrics,” said Vasum Peiris, MD, chief medical officer and director of pediatrics and special populations at the FDA’s Center for Devices and Radiological Health (CDRH).  

Peiris was involved in developing SHIP-MD (System of Hospitals for Innovation in Pediatrics – Medical Devices), a strategic framework aimed at guiding innovation. Some of its key elements include removing some risk for perceived high-risk pediatrics research, creating revolving expedited single institutional review board review, and facilitating financial support for early and real-world evidence generation.

Robert Kroslowitz, president and CEO of Berlin Heart Inc., praised the SHIP-MD framework as a way to help provide safe and accelerated development of devices for pediatric populations. “Finally, to be able to bring everyone to the table, that is really necessary to move the field forward.”

FDA Rare Disease Day 2021


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Tags: FDA, rare disease

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