The study of a disease is inherently challenging when patients are few and far between, but doctors at the Perelman School of Medicine have reported a new patient-powered approach that may help to revolutionize the study of rare diseases.

The Penn Medicine researchers, in a paper in Cell Reports Medicine, described a new type of patient registry they recently developed for Castleman disease, a rare disorder involving flu-like symptoms, enlarged lymph nodes, and sometimes life-threatening vital organ dysfunction.

The registry, called ACCELERATE, includes an approach in which Castleman disease patients can enroll directly. The researchers found that this patient-powered approach greatly boosted enrollment and the overall availability of data, compared to the traditional approach in which doctors at a few designated sites can enroll their patients. Another innovative component is that the study team requests and extracts data from the full medical record for each patient who enrolls rather than relying on physicians or patients to enter data, significantly increasing the quantity of data included.

One of the greatest barriers to progress for rare diseases is the lack of high-quality, centralized data, says study senior author David Fajgenbaum, an assistant professor of translational medicine and human genetics at the Perelman School of Medicine who directs the Center for Cytokine Storm Treatment & Laboratory and is a patient with Castleman disease. Using this novel, patient-powered study design to centralize high-quality data through ACCELERATE has been transformative for Castleman disease tracking and clinical trial enrollment and may serve as a model for research on thousands of other rare diseases that have no approved therapies.

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