A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

MPS IIIB (Sanfilippo Syndrome) Clinical Trial

Official title:

A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02293382
• Other study ID #: NGLU-NH01
• Status: Completed
• Phase: N/A
• First received: November 3, 2014
• Last updated: February 2, 2017
• Start date: July 2013
• Est. completion date: January 2015

Study information

• Verified date: February 2017
• Source: Alexion Pharmaceuticals
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 30
• Est. completion date: January 2015
• Est. primary completion date: January 2015
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• MPS IIIB (Sanfilippo Syndrome)
• Mucopolysaccharidoses
• Mucopolysaccharidosis III

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Alexion Pharmaceuticals

Countries where clinical trial is conducted

United States,  Brazil,  Netherlands,  Spain,  United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.	N/A as this is a retrospective chart review of deceased patients