ACCELERATE: A Patient-Powered Natural History Study Design Enabling Clinical and Therapeutic Discoveries in a Rare Disorder

• Published in: Cell reports. Medicine 2020-12, Vol.1 (9), p.100158-100158, Article 100158
• Main Authors: Pierson, Sheila K., Khor, Johnson S., Ziglar, Jasira, Liu, Amy, Floess, Katherine, NaPier, Erin, Gorzewski, Alexander M., Tamakloe, Mark-Avery, Powers, Victoria, Akhter, Faizaan, Haljasmaa, Eric, Jayanthan, Raj, Rubenstein, Arthur, Repasky, Mileva, Elenitoba-Johnson, Kojo, Ruth, Jason, Jacobs, Bette, Streetly, Matthew, Angenendt, Linus, Patier, Jose Luis, Ferrero, Simone, Zinzani, Pier Luigi, Terriou, Louis, Casper, Corey, Jaffe, Elaine, Hoffmann, Christian, Oksenhendler, Eric, Fosså, Alexander, Srkalovic, Gordan, Chadburn, Amy, Uldrick, Thomas S., Lim, Megan, van Rhee, Frits, Fajgenbaum, David C.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Castleman disease; Castleman Disease - diagnosis; Castleman Disease - therapy; Child; Child, Preschool; Data Collection - standards; direct-to-patient; Female; Humans; Infant; Male; Middle Aged; natural history registry; orphan disease; patient-powered; Rare Diseases - diagnosis; Rare Diseases - therapy; Registries - statistics & numerical data; Research Design - standards; Young Adult
• ISSN: 2666-3791; 2666-3791
• DOI: 10.1016/j.xcrm.2020.100158

Geographically dispersed patients, inconsistent treatment tracking, and limited infrastructure slow research for many orphan diseases. We assess the feasibility of a patient-powered study design to overcome these challenges for Castleman disease, a rare hematologic disorder. Here, we report initial results from the ACCELERATE natural history registry. ACCELERATE includes a traditional physician-reported arm and a patient-powered arm, which enables patients to directly contribute medical data and biospecimens. This study design enables successful enrollment, with the 5-year minimum enrollment goal being met in 2 years. A median of 683 clinical, laboratory, and imaging data elements are captured per patient in the patient-powered arm compared with 37 in the physician-reported arm. These data reveal subgrouping characteristics, identify off-label treatments, support treatment guidelines, and are used in 17 clinical and translational studies. This feasibility study demonstrates that the direct-to-patient design is effective for collecting natural history data and biospecimens, tracking therapies, and providing critical research infrastructure. [Display omitted] Partnership with the patient community supports recruitment and results disseminationA patient-powered design enables high enrollment from a rare disease populationExtensive clinical data reveal >40 off-label treatments used in Castleman diseaseDe-identified linkage with a biobank supports translational research discoveries Pierson et al. describe the feasibility of a patient-powered natural history registry for studying Castleman disease. They pair a traditional registry with a patient-powered approach, in which patients self-enroll and data collection is centralized. Clinical insights support treatment guidelines, and de-identified linkage to a biobank enables translational discoveries.