The natural history of MPS I: global perspectives from the MPS I Registry.

ABSTRACT:

Purpose

In this study, we aimed to describe the natural history of mucopolysaccharidosis I.

Methods

Data from 1,046 patients who enrolled in the MPS I Registry as of August 2013 were available for descriptive analysis. Only data from untreated patients and data prior to treatment for patients who received treatment were considered. Age at symptom onset, diagnosis, and treatment initiation were examined by geographic region and phenotype (from most to least severe: Hurler, Hurler-Scheie, and Scheie). For each symptom, frequency and age at onset were examined.

Results

Natural history data were available for 987 patients. Most patients were from Europe (45.5%), followed by North America (34.8%), Latin America (17.3%), and Asia Pacific (2.4%). Phenotype distribution was 6

SUBMITTER: Beck M 

PROVIDER: S-EPMC4189384 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature