A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

Alexion Pharmaceuticals, Inc.30 enrolled

Overview

The objective is to perform a retrospective chart review to generate data to evaluate the clinical characteristics and course of disease progression of MPS IIIB.

Study Type

OBSERVATIONAL

Enrollment

Conditions

MPS IIIB (Sanfilippo Syndrome)

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: 1. The deceased patient was diagnosed with MPS IIIB as determined by either of the following: 1. Documented deficiency of NAGLU enzyme activity. 2. Documented functionally-relevant mutations in both alleles of the NAGLU gene. 2. Patient's parent or legal guardian provides informed consent (unless the requirement for informed consent is waived by local regulations). 3. The availability of pre-defined information in the patient's clinical chart: Exclusion Criteria: There are no exclusion criteria for this study.

Locations (5)

Unnamed facility

Pittsburgh, Pennsylvania, United States

Unnamed facility

Porte Alegre, Brazil

Unnamed facility

Amsterdam, Netherlands

Unnamed facility

Barcelona, Spain

Unnamed facility

Birmingham, United Kingdom

Outcomes

Primary Outcomes

Evaluation of disease presentation and the course of disease progression including the end stage of the disease in patients with MPS IIIB, assessed from medical history data obtained by retrospective chart review of deceased patients.

Data obtained by retrospective chart review will include medical history data including patient demographics, disease manifestation onset, clinical history, diagnostic tests and treatments for MPS IIIB, supportive interventions/medications, clinical chemistry and haematology results, anthropometric data, radiology results, and autopsy findings.

Time frame: N/A as this is a retrospective chart review of deceased patients

Data from ClinicalTrials.gov

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