Clinical burden and health-related quality of life in Chinese patients under 16 with mucopolysaccharidosis type II

A cross‑sectional study published in Pharmacoeconomics and Policy assessed health‑related quality of life (HRQoL) and its determinants in Chinese patients aged under 16 years with mucopolysaccharidosis type II (MPS II), a rare X‑linked lysosomal storage disorder with high prevalence in East Asia.

Data were collected via an online questionnaire distributed through the China Rare Disease Alliance platform in February 2023, using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales alongside sociodemographic and clinical information. Across 22 provinces, 129 patients enrolled (98% male, mean age 8.7 years), with the mean age at symptom onset being 2.5 years.

“We found that diagnosis was delayed by over one year on average, with 57% experienced prior misdiagnosis,” says the study’s corresponding author Ni Yuan. “Nearly ten organ systems were affected per patient, with facial changes, skeletal lesions, and cognitive impairments being the most prevalent current symptoms.”

Notably, overall HRQoL was impaired, with a mean total PedsQL score of 30.08 (SD 19.51) – substantially lower than scores reported for other severe paediatric chronic conditions. “Domain‑specific scores were lowest for school functioning (20.89) and social functioning (24.73), indicating major difficulties in daily routines and peer interactions,” adds Yuan.

Statically, multiple linear regression (adjusted R² = 0.381) identified three independent predictors: older age (β = −2.00, P = 0.003) and the presence of neurological or cognitive problems (β = −12.80, P < 0.001) were significant negative correlates, whereas current school attendance was a strong positive predictor (β = 16.33, P < 0.001). Further, subgroup analyses showed that patients with mild disease, those receiving enzyme replacement therapy, and those with commercial health insurance tended to have higher HRQoL scores, though not all reached statistical significance in the multivariable model.

“The findings underscore the severe multisystemic burden and diagnostic challenges of MPS II in China, highlighting the critical roles of early diagnosis, timely intervention, and inclusive educational support in improving patient well‑being,” says Yuan. “They also provide empirical evidence to inform clinical management, multidisciplinary care models, and rare‑drug policy decisions, such as expanding National Reimbursement Drug List coverage.

Nonetheless, the researchers acknowledged the limitations of the study, which include the cross-sectional design, proxy-reported HRQoL (due to patients’ young age), and single-source recruitment, though the sample is nationally representative through the largest patient organisation. They proposed that future research should explore longitudinal outcomes and the cost-effectiveness of emerging therapies.

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Contact the author: Ni Yuan, School of Public Health, Dalian Medical University, Dalian, Liaoning, China. nier1209@dmu.edu.cn

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