Analysis of Health-Related Quality of Life and Its Influencing Factors in Chinese Patients With Duchenne Muscular Dystrophy
Author(s)
Shanshan Wang, Master1, Yun Yuan, PhD2, Anqi Wang, PhD1, Yunshu Xu, Master1, Zhiying Xie, PhD2, Kun Wu, PhD3, Ni Yuan, PhD1.
1School of Public Health, Dalian Medical University, Dalian, China, 2Peking University, Beijing, China, 3Pansy Rare Disease Alliance, Shanghai, China.
1School of Public Health, Dalian Medical University, Dalian, China, 2Peking University, Beijing, China, 3Pansy Rare Disease Alliance, Shanghai, China.
OBJECTIVES: Duchenne muscular dystrophy (DMD) is the most prevalent X-linked recessive genetic muscle degeneration disease, which was included in China's first batch of Rare Diseases List in 2018. To date, no curative treatment exists for DMD, and patients experience significantly lower health-related quality of life (HRQoL) both physically and psychologically compared to the general population, with a progressive decline as the disease advances.This study aimed to evaluate HRQoL and its influencing factors among Chinese patients with DMD.
METHODS: In December 2024, a cross-sectional survey was conducted among eligible DMD patients and their families via an online questionnaire facilitated by the Organizations Supporting Clinicians and Rare Disease Patients. Descriptive statistical methods were employed to summarize patient characteristics and HRQoL. Multivariate linear regression and logistic regression analyses were utilized to identify key determinants of HRQoL in DMD patients.
RESULTS: A total of 3,517 valid questionnaires were collected. The mean age of patients was 8.95 years (SD 3.27), with males comprising 98.86% of the sample. The average EQ-VAS score was 66.52 (SD 22.58), the mean Health Utility Score (HUS) was 0.61 (SD 0.29), and the average PedsQL 4.0 score was 45.50 (SD 20.46). A substantial proportion of patients experienced difficulties in self-care (72.1%) and daily activities (73.9%). The PedsQL 4.0 scores indicated significant challenges in physical functioning was 37.83 (SD 24.74). Multiple linear regression analysis revealed that age and current symptoms (elevated serum creatine kinase, difficulty lying down, Achilles tendon contractures, exacerbated gait abnormalities, and scoliosis) were significant predictors of EQ-VAS scores, HUS, and PedsQL 4.0 scores.
CONCLUSIONS: This study demonstrates that Chinese patients with DMD exhibit markedly reduced HRQoL, particularly in the physical domain. These findings provide empirical evidence to inform interventions aimed at improving HRQoL for DMD patients.
METHODS: In December 2024, a cross-sectional survey was conducted among eligible DMD patients and their families via an online questionnaire facilitated by the Organizations Supporting Clinicians and Rare Disease Patients. Descriptive statistical methods were employed to summarize patient characteristics and HRQoL. Multivariate linear regression and logistic regression analyses were utilized to identify key determinants of HRQoL in DMD patients.
RESULTS: A total of 3,517 valid questionnaires were collected. The mean age of patients was 8.95 years (SD 3.27), with males comprising 98.86% of the sample. The average EQ-VAS score was 66.52 (SD 22.58), the mean Health Utility Score (HUS) was 0.61 (SD 0.29), and the average PedsQL 4.0 score was 45.50 (SD 20.46). A substantial proportion of patients experienced difficulties in self-care (72.1%) and daily activities (73.9%). The PedsQL 4.0 scores indicated significant challenges in physical functioning was 37.83 (SD 24.74). Multiple linear regression analysis revealed that age and current symptoms (elevated serum creatine kinase, difficulty lying down, Achilles tendon contractures, exacerbated gait abnormalities, and scoliosis) were significant predictors of EQ-VAS scores, HUS, and PedsQL 4.0 scores.
CONCLUSIONS: This study demonstrates that Chinese patients with DMD exhibit markedly reduced HRQoL, particularly in the physical domain. These findings provide empirical evidence to inform interventions aimed at improving HRQoL for DMD patients.
Conference/Value in Health Info
2025-09, ISPOR Real-World Evidence Summit 2025, Tokyo, Japan
Value in Health Regional, Volume 49S (September 2025)
Code
RWD18
Topic Subcategory
Data Protection, Integrity, & Quality Assurance
Disease
SDC: Rare & Orphan Diseases