The Socioeconomic Burden and Health-Related Quality of Life in Patients With Facioscapulohumeral Muscular Dystrophy
Author(s)
Wenjing Ji, Phd1, Yifei Zhao, Bsc1, Ailiyaer Aikepaier, Bsc2, Yu Fang, Phd1.
1Department of Pharmacy Administration, School of Pharmacy, Xi'an Jiaotong University, Shaanxi, China, Xi'an, China, 2Chinese Organization for Rare Disorders, Hangzhou, China.
1Department of Pharmacy Administration, School of Pharmacy, Xi'an Jiaotong University, Shaanxi, China, Xi'an, China, 2Chinese Organization for Rare Disorders, Hangzhou, China.
OBJECTIVES: Facioscapulohumeral muscular dystrophy (FSHD) is a rare, autosomal dominant disorder that adversely affects life expectancy and health-related quality of life. There is a paucity of in-depth qualitative research in FSHD. This study aims at exploring how FSHD affects this population.
METHODS: A mixed-methods approach was employed, combining quantitative surveys and semi-structured interviews in China. Qualitative interviews explored lived experiences, challenges, and unmet needs of FSHD patients. Quantitative data were collected using standardized questionnaires, including demographics, disease progression, treatment model, economic burden, the EQ-5D-5L (adults) and EQ-5D-Y (children) to assess health-related quality of life, the Self-Rating Anxiety Scale (SAS), and the Self-Rating Depression Scale (SDS). The study is registered at http://clinicaltrials.gov (NCT06517498).
RESULTS: A total of 263 patients with FSHD participated in the survey, and 33 took part in interviews, representing 29 provinces across China. Diagnostic delays (mean: 9.8 years) and misdiagnosis (57%) were prevalent among FSHD patients. Health-related quality of life, assessed via EQ-5D-5L, revealed a median utility index of 0.671 (IQR: 0.363-0.824) and a median EQ-VAS score of 50 (IQR: 40-70). Severe functional impairments were reported in mobility (17.5%), self-care (6.9%), and daily activities (14.7%). Psychological burdens were substantial, with nearly 30% experiencing moderate anxiety, 8.7% severe anxiety, and 48.7% severe depression. Economically, over half (52.5%) reported an annual household income below ¥50,000, while 25.1% faced medical expenses exceeding ¥10,000/year. Debt burdens were notable (21.3%), with some cases surpassing ¥500,000. Caregiving needs were high, 60% required full-time family support. And 75.3% lacked commercial health insurance. Familial clustering was prominent (60% with a family history), and critical unmet needs included targeted therapies, assistive devices, and psychological support.
CONCLUSIONS: FSHD imposes multifaceted burdens on patients, underscoring urgent needs for early diagnostics, accessibility and affordability of targeted treatments, and social security enhancements to mitigate patient hardships.
METHODS: A mixed-methods approach was employed, combining quantitative surveys and semi-structured interviews in China. Qualitative interviews explored lived experiences, challenges, and unmet needs of FSHD patients. Quantitative data were collected using standardized questionnaires, including demographics, disease progression, treatment model, economic burden, the EQ-5D-5L (adults) and EQ-5D-Y (children) to assess health-related quality of life, the Self-Rating Anxiety Scale (SAS), and the Self-Rating Depression Scale (SDS). The study is registered at http://clinicaltrials.gov (NCT06517498).
RESULTS: A total of 263 patients with FSHD participated in the survey, and 33 took part in interviews, representing 29 provinces across China. Diagnostic delays (mean: 9.8 years) and misdiagnosis (57%) were prevalent among FSHD patients. Health-related quality of life, assessed via EQ-5D-5L, revealed a median utility index of 0.671 (IQR: 0.363-0.824) and a median EQ-VAS score of 50 (IQR: 40-70). Severe functional impairments were reported in mobility (17.5%), self-care (6.9%), and daily activities (14.7%). Psychological burdens were substantial, with nearly 30% experiencing moderate anxiety, 8.7% severe anxiety, and 48.7% severe depression. Economically, over half (52.5%) reported an annual household income below ¥50,000, while 25.1% faced medical expenses exceeding ¥10,000/year. Debt burdens were notable (21.3%), with some cases surpassing ¥500,000. Caregiving needs were high, 60% required full-time family support. And 75.3% lacked commercial health insurance. Familial clustering was prominent (60% with a family history), and critical unmet needs included targeted therapies, assistive devices, and psychological support.
CONCLUSIONS: FSHD imposes multifaceted burdens on patients, underscoring urgent needs for early diagnostics, accessibility and affordability of targeted treatments, and social security enhancements to mitigate patient hardships.
Conference/Value in Health Info
2025-09, ISPOR Real-World Evidence Summit 2025, Tokyo, Japan
Value in Health Regional, Volume 49S (September 2025)
Code
RWD289
Topic Subcategory
Health & Insurance Records Systems
Disease
SDC: Rare & Orphan Diseases