Clinical study design for Rare Diseases

The Alpha-1 Foundation brought together members of the medical community, researchers, patient advocates, and government and pharmaceutical industry representatives for the meeting “Clinical Trial Design for Alpha-1 Deficiency: A Model for Rare Diseases, ” held Feb. 3-4 in Bethesda, MD.

The focus of the two-day meeting, part of the Foundation’s Gordon L. Snider Critical Issues Workshop Series, was to “advance the science of [Alpha-1] and hope that the discussions will identify opportunities for regulatory flexibility and accelerated approval pathways, ” wrote Foundation President John Walsh and Scientific Director Adam Wanner, MD.

The challenges facing clinical research in Alpha-1 and other rare diseases include “limited numbers of volunteers available for research, uncertainties about appropriate clinical outcome variables and the paucity of financially strong pharmaceutical companies” to sponsor randomized controlled trials, said Walsh and Wanner.

The general session, “Innovative Trial Design in Rare Diseases, ” was chaired by Steve Groft, PharmD, director of the Office of Rare Diseases Research at the National Institutes of Health (NIH). Groft, who has played a crucial role in advocating for the rare disease community and advancing research over 30 years, announced his retirement as of Feb. 8.

Groft championed the Orphan Drug Act, enacted in 1983, and was instrumental in the launch of the NIH Rare Diseases Clinical Research Network (RDCRN).

At the conference, Walsh honored Groft’s contributions and leadership in the rare disease community, presenting him with two crystal candlesticks “because he lit the way, ” Walsh said.

“He’s provided guidance and counsel all along the way, ” Walsh said, adding that they had met in 1993, and Groft steadfastly supported Walsh’s plan to start the Alpha-1 Foundation two years later.

Other speakers in the general session panel included J. Russell Teagarden, senior vice president of medical & scientific affairs at the National Organization for Rare Disorders (NORD); David Hickam, MD, MPH, Clinical Effectiveness Research Program director at the Patient-Centered Outcomes Research Institute (PCORI); Jeffrey Krischer, PhD, director of the University of South Florida Pediatric Epidemiology Center; and Kathryn O’Connell, MD, PhD, medical officer for the Food and Drug Administration’s Rare Diseases Program.

The meeting had separate sessions devoted to liver and lung disease clinical trials. The liver session was moderated by David Brenner, MD, of University of California at San Diego, former scientific advisor on the Foundation’s Board Executive Committee, and included prominent Alpha-1 pediatric liver specialist Jeff Teckman, MD, of Saint Louis University School of Medicine, and Michael McCaleb, PhD, of ISIS Pharmaceuticals, who offered an industry perspective of rare liver disease trials.

John Walsh, left, presents Steve Groft with crystal candlesticks in recognition of how Groft 'lit the way' for the rare disease community.

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