The socioeconomic impacts of fibrodysplasia ossificans progressiva: evidence from a retrospective case-control study in France

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Abstract Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare genetic bone disorder associated with considerable clinical, economic, and societal impacts on patients, their caregivers, and the healthcare system. The aim of this study was to update the estimated prevalence of FOP in France, characterize the FOP patient population and impact of the disease, assess associated mortality rates, and quantify healthcare resource utilization and socioeconomic costs for individuals with FOP. An observational, retrospective case-control study was conducted using linked data for individuals with FOP from the French National Rare Diseases Registry and the French National Healthcare System Database (SNDS). Results were compared with the SNDS for a control group of individuals with any disease other than FOP. Prevalence of FOP was estimated at 1.39 per million. Data were available for 77 individuals with FOP and 769 controls without FOP. Of 70 individuals with FOP and a social security number at the index date, 50.0% (n = 35/70) were female, and the mean (SD) age was 25.3 (15.7) yr. Comorbidities were consistently more prevalent in individuals with FOP than in people without FOP. Consultations with general practitioners and non-physician healthcare providers, hospitalizations, and use of medical devices and treatments were significantly greater in individuals with vs without FOP (p < .05 for all). Mean total annual healthcare expenditure was more than 10 times greater in individuals with FOP than those without FOP from a societal perspective (largely driven by outpatient costs) and 14 times greater from a payer perspective. Overall survival was significantly worse in individuals with FOP than in individuals without (p < .0001). Findings from this study reinforce the clinical, economic, and societal impacts associated with FOP. Improving disease awareness and developing new interventions to support a reduction in these impacts should be considered key priorities for the FOP community and healthcare providers.

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