Use of Assistive Devices and Adaptations by Individuals with Fibrodysplasia Ossificans Progressiva (FOP): Data from a Global Natural History Study

Introduction FOP is an ultra-rare, severely disabling genetic disorder of progressive heterotopic ossification (HO). HO is episodic, causing cumulative disability. Most individuals with FOP are confined to a wheelchair by the third decade of life. Objective: To characterize the use of assistive devices and adaptations (ADA) in individuals with FOP in a natural history study (NHS).

Methods Individuals with FOP aged ≤65 years with a documented ACVR1R206H mutation were eligible to participate in a prospective, 36-month NHS (NCT02322255). This analysis describes the use of ADA at Baseline (BL) and new ADA reported annually. Participants indicated which ADA they were using via a list grouped into 12 categories. The proportion of participants using ≥1 ADA in each category was stratified by age group and analyzed using descriptive statistics.

Results Data on ADA usage were available for 111/114 participants, and use of new ADA for 84/99 participants with any assessment at Month 12. The most common ADA categories used overall at BL (n = 111) were personal care tools/aids (82.9 %), bedroom aids and devices (75.7 %), care attendants (73.0 %), eating tools (66.7 %), and mobility aids (65.8 %). The same devices were used at Month 12 (n = 97) by 84.5 %, 75.3 %, 72.2 %, 62.9 %, and 70.1 % of participants, respectively. In younger participants, use of school adaptations was similar (2–7 years: 81.3 % [13/16]; 8–14 years: 79.4 % [27/34]). A relatively high proportion of participants aged 8–14 years used medical therapies for daily living (79.4 % [27/34]) compared with other age groups. Several categories of ADA were used more frequently in older versus younger age groups including mobility aids, personal care tools/aids, bathroom and bedroom aids/devices, and home adaptations. The most common new ADA at Month 12 across age groups were personal care tools/aids, care attendants, bathroom and bedroom aids/devices, and home adaptations; there was a notable rise in the use of new ADA from these categories in participants aged ≥25 years.

Discussion At least 83 % of participants in the NHS used ≥1 ADA to manage their disabilities at Baseline and at least 40 % used ≥1 new ADA at Month 12. Specific types of ADA used varied across age groups and over 12 months; however, longer follow-up to capture the increase in number and complexity of ADA is needed to further demonstrate the physical and financial burden of FOP, and the rate of progression of ADA use.

Keywords FOP, Rare bone disease, NHS, Fibrodysplasia ossificans progressiva

Korrespondenzadresse Edward C. Hsiao, Division of Endocrinology and Metabolism, the UCSF Metabolic Bone Clinic, the Institute of Human Gen, University of California-San Francisco, 513 Parnassus Ave, 94143 San Francisco, CA, USA

E-Mail [e-mail]

Conflict of interest Advisory board (all voluntary): Fibrous Dysplasia Foundation, IFOPA Registry Medical Advisory Board, International Clinical Council on FOP; Research support: Clementia/Ipsen, Regeneron; Research investigator: Clementia/Ipsen.

Publication History

Article published online:
05 March 2021