Assessing the economic burden and health-related quality of life in chinese patients with fibrodysplasia ossificans progressiva: a questionnaire survey analysis
Abstract Background 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...
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BMC
2025-08-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1186/s13023-025-03884-0 |
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| author | Xiaoyang Xu Xiaoning He Wei Wu Yuhang Xin Qingnan Li Lei Song Kexin Li Jing Wu |
| author_facet | Xiaoyang Xu Xiaoning He Wei Wu Yuhang Xin Qingnan Li Lei Song Kexin Li Jing Wu |
| author_sort | Xiaoyang Xu |
| collection | DOAJ |
| description | Abstract Background 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 . Methods 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. Results 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). Conclusion 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. |
| format | Article |
| id | doaj-art-e757910348f84458b8a07d14fc7dfef3 |
| institution | Kabale University |
| issn | 1750-1172 |
| language | English |
| publishDate | 2025-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj-art-e757910348f84458b8a07d14fc7dfef32025-08-20T03:46:12ZengBMCOrphanet Journal of Rare Diseases1750-11722025-08-012011910.1186/s13023-025-03884-0Assessing the economic burden and health-related quality of life in chinese patients with fibrodysplasia ossificans progressiva: a questionnaire survey analysisXiaoyang Xu0Xiaoning He1Wei Wu2Yuhang Xin3Qingnan Li4Lei Song5Kexin Li6Jing Wu7School of Pharmaceutical Science and Technology, Faculty of Medicine, Tianjin UniversitySchool of Pharmaceutical Science and Technology, Faculty of Medicine, Tianjin UniversitySchool of Pharmaceutical Science and Technology, Faculty of Medicine, Tianjin UniversitySchool of Pharmaceutical Science and Technology, Faculty of Medicine, Tianjin UniversityChina Alliance for Rare DiseasesMedical Price Branch of Beijing Municipal Price AssociationChina Alliance for Rare DiseasesSchool of Pharmaceutical Science and Technology, Faculty of Medicine, Tianjin UniversityAbstract Background 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 . Methods 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. Results 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). Conclusion 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.https://doi.org/10.1186/s13023-025-03884-0Fibrodysplasia ossificans progressiveEconomic burdenHealth-related quality of lifeReal-world |
| spellingShingle | Xiaoyang Xu Xiaoning He Wei Wu Yuhang Xin Qingnan Li Lei Song Kexin Li Jing Wu Assessing the economic burden and health-related quality of life in chinese patients with fibrodysplasia ossificans progressiva: a questionnaire survey analysis Orphanet Journal of Rare Diseases Fibrodysplasia ossificans progressive Economic burden Health-related quality of life Real-world |
| title | Assessing the economic burden and health-related quality of life in chinese patients with fibrodysplasia ossificans progressiva: a questionnaire survey analysis |
| title_full | Assessing the economic burden and health-related quality of life in chinese patients with fibrodysplasia ossificans progressiva: a questionnaire survey analysis |
| title_fullStr | Assessing the economic burden and health-related quality of life in chinese patients with fibrodysplasia ossificans progressiva: a questionnaire survey analysis |
| title_full_unstemmed | Assessing the economic burden and health-related quality of life in chinese patients with fibrodysplasia ossificans progressiva: a questionnaire survey analysis |
| title_short | Assessing the economic burden and health-related quality of life in chinese patients with fibrodysplasia ossificans progressiva: a questionnaire survey analysis |
| title_sort | assessing the economic burden and health related quality of life in chinese patients with fibrodysplasia ossificans progressiva a questionnaire survey analysis |
| topic | Fibrodysplasia ossificans progressive Economic burden Health-related quality of life Real-world |
| url | https://doi.org/10.1186/s13023-025-03884-0 |
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