Assessing the economic burden and health-related quality of life in chinese patients with fibrodysplasia ossificans progressiva: a questionnaire survey analysis

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, disabling genetic disorder condition that lacks real-world evidence on disease burden. This study aims to investigate the basic characteristics, diagnostic status, prognosis, economic burden and quality of life of FOP patients in China through self-reported data . An online survey was conducted through the "China Cloud Platform for Rare Diseases" among patients recruited from the FOP patient organization in March 2023. Patient demographic characteristics, diagnosis, prognosis, healthcare resource usage and costs, and health-related quality of life (HRQoL) data were collected. Health-related quality of life was assessed using EQ-5D-Y for children aged 4-15 and EQ-5D-5L for patients aged ≥ 16. Age subgroup analyses for those aged < 8, 8-15, and ≥ 16 were conducted. A total of 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. Only 38.8% of the patients had outpatient or inpatient visits in the past year. The annual cost per patient was USD 10,820 ± 10,894, with 75.2% being indirect costs. Health utility values were lowest for patients aged ≥ 16 (0.221 ± 0.336), compared to those aged < 8 (0.700 ± 0.163) and those aged 8-15 (0.618 ± 0.202). FOP patients suffer long delay diagnosis duration, high disability rates in China. A significant disease burden was driven by high indirect costs and poor quality of life. Patients aged ≥ 16 have the worst health-related quality of life.