The natural history of fibrodysplasia ossificans progressiva: A prospective, global 36-month study

Autor: Robert J. Pignolo, Geneviève Baujat, Matthew A. Brown, Carmen De Cunto, Edward C. Hsiao, Richard Keen, Mona Al Mukaddam, Kim-Hanh Le Quan Sang, Amy Wilson, Rose Marino, Andrew Strahs, Frederick S. Kaplan
Rok vydání: 2022
Předmět:
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics. 24(12)
ISSN: 1530-0366
Popis: We report the first prospective, international, natural history study of the ultra-rare genetic disorder fibrodysplasia ossificans progressiva (FOP). FOP is characterized by painful, recurrent flare-ups, and disabling, cumulative heterotopic ossification (HO) in soft tissues.Individuals aged ≤65 years with classical FOP (ACVR1In total, 114 individuals participated; 33 completed the study (mean follow up: 26.8 months). Median age was 15.0 (range: 4-56) years; 54.4% were male. During the study, 82 (71.9%) individuals reported 229 flare-ups (upper back: 17.9%, hip: 14.8%, shoulder: 10.9%). After 84 days, 14 of 52 (26.9%) imaged flare-ups had new HO at the flare-up site (mean new HO volume: 28.8 × 10Results from individuals receiving standard care for up to 3 years in this natural history study show the debilitating effect and progressive nature of FOP cross-sectionally and longitudinally, with greatest progression during childhood and early adulthood.
Databáze: OpenAIRE