학술논문

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes
Document Type
article
Source
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Subject
Fibrodysplasia Ossificans Progressiva
Heterotopic ossification
Disease progression
Natural history
Clinical trial endpoints
Cross-sectional analysis
Medicine
Language
English
ISSN
1750-1172
Abstract
Abstract Background Fibrodysplasia Ossificans Progressiva (FOP; OMIM#135100) is an ultra-rare, severely disabling genetic disease characterized by congenital malformation of the great toes and progressive heterotopic ossification (HO) in muscles, tendons, ligaments, fascia, and aponeuroses often preceded by painful, recurrent soft tissue swelling (flare-ups). The formation of HO leads to progressive disability, severe functional limitations in joint mobility, and to a shortened life-span. In this prospective natural history study, we describe the baseline, cross-sectional disease phenotype of 114 individuals with FOP. Methods All subjects underwent protocol-specified baseline assessments to determine their disease status. Cross-sectional analyses were performed using linear regression in which functional evaluations (Cumulative Analogue Joint Involvement Scale [CAJIS] and the FOP-Physical Function Questionnaire [FOP-PFQ]) and the burden of HO as measured by low-dose whole body CT (volume of HO and number of body regions with HO) were assessed. Results Findings from 114 subjects (age range 4 to 56 years) were evaluated. While subject age was significantly (p