Female Patients With Mucopolysaccharidosis II (MPS II): Insights From the Hunter Outcome Survey.

ABSTRACT: Mucopolysaccharidosis II is a rare, X-linked disease, with very few reports of affected female patients. Natural history data describe a predominantly male population, and appropriate disease characterization in female patients is lacking. This analysis explores the somatic disease burden and clinical progression of female patients with MPS II enrolled in the Hunter Outcome Survey (HOS; NCT03292887), a global disease registry. In total, 15 female patients were identified, representing 1.1% of the total patients in HOS. The median ages at first symptom onset and diagnosis were 1.8 and 3.1 years, respectively. A total of 8/14 (57.1%) of patients had cognitive impairment at the latest visit. X-chromosome abnormalities were reported in two patients. Most patients (11/15, 73.3%) had received at

SUBMITTER: Burton BK 

PROVIDER: S-EPMC12672032 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature