A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.

ABSTRACT:

Objectives

To characterize the clinical course of mucopolysaccharidosis type IIIA (MPS IIIA), and identify potential endpoints for future treatment trials.

Study design

Children with a confirmed diagnosis of MPS IIIA, functioning above a developmental age of 1 year, were followed for up to 2 years. Cognitive status and brain atrophy were assessed by standardized tests and volumetric magnetic resonance imaging, respectively. Liver and spleen volumes and cerebrospinal fluid and urine biomarker levels were measured.

Results

Twenty-five children, from 1.1 to 18.4 years old, were enrolled, and 24 followed for at least 12 months. 19 exhibited a rapidly progressing (RP) form of MPS IIIA, and 5, a more slowly progressing form. Children with RP plateaued in development by 30 m

SUBMITTER: Shapiro EG 

PROVIDER: S-EPMC4769976 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature