A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

Completed

• Conditions: MPS IIIB (Sanfilippo Syndrome)

• Registration Number: NCT02293382
• Lead Sponsor: Alexion Pharmaceuticals, Inc.

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2013-07
• Study First Submitted: 2014-11-03
• Study First Submitted QC: 2014-11-17
• Study First Posted: 2014-11-18
• Primary Completion: 2015-01
• Study Completion: 2015-01
• Status Verified: 2017-02
• Last Update Submitted: 2017-02-02
• Last Update Posted: 2017-02-03

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 30

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
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.	N/A as this is a 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.