A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

NCT ID: NCT02293382

Last Updated: 2017-02-03

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

30 participants

Study Classification

OBSERVATIONAL

Study Start Date

2013-07-31

Study Completion Date

2015-01-31

Brief Summary

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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

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Conditions

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MPS IIIB (Sanfilippo Syndrome)

Study Design

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Observational Model Type

CASE_ONLY

Study Time Perspective

RETROSPECTIVE

Eligibility Criteria

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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:
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Alexion Pharmaceuticals, Inc.

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Pittsburgh, Pennsylvania, United States

Site Status

Porte Alegre, , Brazil

Site Status

Amsterdam, , Netherlands

Site Status

Barcelona, , Spain

Site Status

Birmingham, , United Kingdom

Site Status

Countries

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United States Brazil Netherlands Spain United Kingdom

Other Identifiers

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NGLU-NH01

Identifier Type: -

Identifier Source: org_study_id

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