A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

February 2, 2017 updated by: Alexion Pharmaceuticals
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 Overview

Status

Completed

Study Type

Observational

Enrollment (Actual)

30

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

30 deceased patients with MPS IIIB

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Time Frame: 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.
N/A as this is a retrospective chart review of deceased patients

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2013

Primary Completion (Actual)

January 1, 2015

Study Completion (Actual)

January 1, 2015

Study Registration Dates

First Submitted

November 3, 2014

First Submitted That Met QC Criteria

November 17, 2014

First Posted (Estimate)

November 18, 2014

Study Record Updates

Last Update Posted (Estimate)

February 3, 2017

Last Update Submitted That Met QC Criteria

February 2, 2017

Last Verified

February 1, 2017

More Information

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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