OBJECTIVES: Fibrodysplasia ossificans progressiva (FOP) is a rare, disabling genetic disorder that severely limits patient mobility and even can lead to death. Until 2018 fewer than 150 patients were identified in Mainland China. There’s a serious lack of objective understanding of the patient's survival status. Therefore, the study aims to investigate the basic characteristics, diagnostic status, prognosis, and disease burden of FOP patients in China.

METHODS: An online survey was conducted in China Cloud Platform For Rare Diseases among patients recruited from the FOP patient organization in China in March 2023. Patient demographics characteristics, diagnosis, prognosis, healthcare resource usage and costs, and health-related quality of life data were collected. Health-related quality of life was assessed using the EQ-5D-Y for children aged 4-15 years and the EQ-5D-5L for patients aged 16 years or older. Age subgroup analyses for those <8 years, 8-15 years, ≥16 year were conducted.

RESULTS: 67 patients (mean age 16.6±10.2 years, 43.3% female) were included. The average delay of confirmed diagnosis was 3.1±4.3 years. 98.5% of patients were disabled due to FOP, and 97.0% of patients experienced heterotopic ossification. Only 38.8% of the patients had outpatient or inpatient visits in the past year. The total annual cost per patient was CNY 74,250±80,105, of which $55,228±54,172 (74.4%) were indirect costs. The highest total annual costs were for patients aged <8 years (CNY 97,969±105,894), followed by patients aged 8-15, and ≥16 years (CNY 58,623±61,134 & CNY 69,210±59,641 respectively). The average health utility values were lowest for those ≥16 years (0.221±0.336), compared to 0.700±0.163 for ages <8 and 0.618±0.202 for ages 8 to 15.

CONCLUSIONS: FOP patients face high disability levels and insufficient illness diagnosis and management, significantly impacting their daily lives. Patients face significant disease burden, characterized by high indirect costs and declining quality of life as they age.