Master protocol trials could reimagine the future of rare disease research
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Researchers from Kennedy Krieger Institute, University of Rochester Medicine and five other institutions released a new publication detailing how master protocol trials could change the future of rare disease research. Using master protocol trials to research rare conditions could decrease costs, improve testing efficiency and capacity, and expedite the delivery of treatments to those facing a rare disease diagnosis.
Patients facing rare diseases often have no treatment options. In the past decade, the U.S. Food and Drug Administration has approved 45 drug therapy options for neurological conditions. While this is a substantial increase from previous years, those medications treat only 26 different conditions—or about 4% of all diagnosed neurological disorders.
"Families living with rare neurological diseases cannot afford to wait for scientific progress to move at a traditional pace," said Dr. Erika Augustine, associate chief science officer and director of the Clinical Trials Unit at Kennedy Krieger Institute and the study's senior author. "Master protocol trials offer a smarter, more collaborative way to evaluate potential therapies and bring effective treatments to patients more efficiently."
A master protocol allows researchers to test multiple drugs or conditions at the same time using the same clinical framework, while traditional clinical trials require a new framework for each new drug or condition tested. Rare disease researchers recently discovered that similar genetic markers are present in multiple conditions. This similarity, paired with the development of targeted gene therapies, could result in master protocol trials that lead to treatment options for rare diseases with similar genetic mutations.
"The collaboration behind this paper reflects the same principle we hope to advance through master protocols," said Dr. Jennifer Vermilion, director of the University of Rochester Batten Center of Excellence and lead author. "Working together, rather than in isolation, can help us answer important questions more efficiently and accelerate progress for patients and families."
The United States defines a rare disease as a condition that affects fewer than 200,000 people. However, having a rare disease is common, with one in 10 people being diagnosed with a rare condition. There are more than 10,000 rare diseases, and most involve neurological symptoms, ranging from problems with body control to developmental disabilities.
This study was possible through a collaborative effort among researchers and experts from University of Rochester Medicine; Mass General Brigham, Spaulding Rehabilitation and Harvard Medical School; Berry Consultants; the Clinical Trials Transformation Initiative at Duke University; the Batten Disease Support, Research, and Advocacy Foundation; Rady Children's Health and UC Irvine; and Kennedy Krieger Institute. You can read the full study in the journal Annals of Neurology.
Publication details
Jennifer Vermilion et al, The Case for Master Protocols for Rare Neurological Diseases, Annals of Neurology (2026). DOI: 10.1002/ana.78311
Journal information: Annals of Neurology
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