PATIENT- AND CAREGIVER-REPORTED BURDEN OF GLYCOGEN STORAGE DISEASE IN CHINA: A CROSS-SECTIONAL SURVEY
Author(s)
Chenyan Wang, MS1, Huxinigeer Maimaiti, MS1, Tingting Liu, BS2, Pan Zhang, BS2, Xuantong Mo, BS2, Yitong Yuan, BS2, Junjie Ma, BS2, WENJING JI, PhD1.
1Center for Drug Safety and Policy Research, Xi’an Jiaotong University, Xi’an, China, Xi'an, China, 2School of Pharmacy, School of Pharmacy, Xi'an Jiaotong University, Xi'an China, Xi'an, China.
1Center for Drug Safety and Policy Research, Xi’an Jiaotong University, Xi’an, China, Xi'an, China, 2School of Pharmacy, School of Pharmacy, Xi'an Jiaotong University, Xi'an China, Xi'an, China.
OBJECTIVES: Glycogen storage disease (GSD) represents a group of rare inherited metabolic disorders requiring lifelong management, yet evidence on patient- and caregiver-reported outcomes in China is limited. This study aimed to characterize the multidimensional burden of GSD among Chinese patients and their primary caregivers.
METHODS: A cross-sectional online survey was conducted from January to March 2026 through a nationwide GSD patient community. Patients or caregivers completed a structured questionnaire on demographics, diagnosis, treatment, complications, economic burden, health-related quality of life (HRQoL), and psychological status. HRQoL was assessed using PedsQL for children aged 0 to 7 years, EQ-5D-Y-5L for patients aged 8 to 15 years, and EQ-5D-5L for patients aged 16 years or older. Anxiety and depression were evaluated using the Self-Rating Anxiety Scale and Self-Rating Depression Scale.
RESULTS: Among 314 patients, 295 questionnaires were caregiver-completed and 19 patient-completed. The median age of patients with GSD was 7.0 years, and median age at diagnosis was 1.5 years. GSD type I accounted for 63.4% of patients. Diagnostic burden among patients with GSD remained notable: 10.2% visited four or more hospitals before diagnosis and 29.3% reported misdiagnosis. Hepatic impairment was reported in 50.3% of patients. Financial burden among families of patients with GSD was substantial, with 53.8% of households reporting annual income below CNY100,000 and 32.2% reporting disease-related debt. Mean EQ VAS was 76.43 among patients aged 8 to 15 years, and mean EQ-5D-5L utility was 0.890 among patients aged 16 years or older. Moderate-to-severe depression was reported by 33.3% of adult patients with GSD and 44.2% of caregivers.
CONCLUSIONS: Chinese families affected by GSD experience persistent diagnostic, clinical, economic, and psychological burdens, highlighting the need for standardized care, long-term complication monitoring, financial support, mental health screening, and family-centered management.
METHODS: A cross-sectional online survey was conducted from January to March 2026 through a nationwide GSD patient community. Patients or caregivers completed a structured questionnaire on demographics, diagnosis, treatment, complications, economic burden, health-related quality of life (HRQoL), and psychological status. HRQoL was assessed using PedsQL for children aged 0 to 7 years, EQ-5D-Y-5L for patients aged 8 to 15 years, and EQ-5D-5L for patients aged 16 years or older. Anxiety and depression were evaluated using the Self-Rating Anxiety Scale and Self-Rating Depression Scale.
RESULTS: Among 314 patients, 295 questionnaires were caregiver-completed and 19 patient-completed. The median age of patients with GSD was 7.0 years, and median age at diagnosis was 1.5 years. GSD type I accounted for 63.4% of patients. Diagnostic burden among patients with GSD remained notable: 10.2% visited four or more hospitals before diagnosis and 29.3% reported misdiagnosis. Hepatic impairment was reported in 50.3% of patients. Financial burden among families of patients with GSD was substantial, with 53.8% of households reporting annual income below CNY100,000 and 32.2% reporting disease-related debt. Mean EQ VAS was 76.43 among patients aged 8 to 15 years, and mean EQ-5D-5L utility was 0.890 among patients aged 16 years or older. Moderate-to-severe depression was reported by 33.3% of adult patients with GSD and 44.2% of caregivers.
CONCLUSIONS: Chinese families affected by GSD experience persistent diagnostic, clinical, economic, and psychological burdens, highlighting the need for standardized care, long-term complication monitoring, financial support, mental health screening, and family-centered management.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
PCR192
Topic
Clinical Outcomes, Epidemiology & Public Health, Patient-Centered Research
Topic Subcategory
Patient-reported Outcomes & Quality of Life Outcomes
Disease
Diabetes/Endocrine/Metabolic Disorders (including obesity), Gastrointestinal Disorders, Mental Health (including addiction), Pediatrics, Rare & Orphan Diseases