Back to Search Start Over

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Natural history of fibrodysplasia ossificans progressiva: cross-sectional analysis of annotated baseline phenotypes

Authors :
Robert J. Pignolo
Geneviève Baujat
Matthew A. Brown
Carmen De Cunto
Maja Di Rocco
Edward C. Hsiao
Richard Keen
Mona Al Mukaddam
Kim-Hanh Le Quan Sang
Amy Wilson
Barbara White
Donna R. Grogan
Frederick S. Kaplan
Source :
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)
Publication Year :
2019
Publisher :
BMC, 2019.

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

Details

Language :
English
ISSN :
17501172
Volume :
14
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Orphanet Journal of Rare Diseases
Publication Type :
Academic Journal
Accession number :
edsdoj.6cc4228a4494be991f5db29909762f4
Document Type :
article
Full Text :
https://doi.org/10.1186/s13023-019-1068-7