OBJECTIVES: Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic disorder of heterotopic ossification that leads to cumulative loss of joint function, creating a substantial need for living adaptations and career changes for people affected.¹ Here, we present the United States (U.S.) and Canadian results from an international burden of illness survey (NCT04665323) used to understand the economic impact of FOP.

METHODS: Individuals with FOP (proxy-completed <13 years) and their family members completed the survey online from 18Jan21–30Apr21. The Patient-Reported Mobility Assessment (PRMA) assessed range of motion across joints/body regions (total scores: 0[no limitation]–30[severe limitation]). Total scores were categorized as: Level 1, 0–6; Level 2, 7–12; Level 3, 13–18; Level 4, ≥19. Patients completed a questionnaire on the use of aids, assistive devices, and adaptations (AADAs) categorized into four areas: mobility/daily activities/pay for assistance; bedroom/bathroom/home; workplace/technology; school/sport. The impact of FOP on participant’s (≥18 years) career decisions was assessed. Results were analyzed by population and by patients’ PRMA level.

RESULTS: 67 patients/proxies and 107 family members (of whom 64 identified as primary caregivers) responded from the U.S. and Canada. AADA use was generally higher for patients with greater mobility restrictions. Mean (standard deviation) number of AADAs used by patients/proxies in PRMA Level 1 (n=14)/PRMA Level 4 (n=22): mobility/daily activities/pay for assistance, 1.4 (1.3)/3.6 (0.5); bedroom/bathroom/home, 1.2 (1.3)/2.8 (0.5); workplace/technology, 0.6 (0.8)/1.5 (0.7); school/sport, 0.8 (1.0)/1.3 (0.8). 85.7% of patients (≥18 years; n=42), 29.2% of family members, and 44.4% of primary caregivers reported that FOP had impacted their career.

CONCLUSIONS: Greater loss of joint function leads to increased use of living adaptations, which may reflect a greater economic impact as disability progresses. Understanding regional information is important to identify targeted changes needed for local FOP communities.