A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02293382
Recruitment Status : Completed
First Posted : November 18, 2014
Last Update Posted : February 3, 2017
Information provided by (Responsible Party):
Alexion Pharmaceuticals

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.

Condition or disease
MPS IIIB (Sanfilippo Syndrome)

Study Type : Observational
Actual Enrollment : 30 participants
Observational Model: Case-Only
Time Perspective: Retrospective
Official Title: A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB
Study Start Date : July 2013
Actual Primary Completion Date : January 2015
Actual Study Completion Date : January 2015

Primary Outcome Measures :
  1. 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.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
30 deceased patients with MPS IIIB

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02293382

United States, Pennsylvania
Pittsburg, Pennsylvania, United States
Porte Alegre, Brazil
Amsterdam, Netherlands
Barcelona, Spain
United Kingdom
Birmingham, United Kingdom
Sponsors and Collaborators
Alexion Pharmaceuticals

Responsible Party: Alexion Pharmaceuticals Identifier: NCT02293382     History of Changes
Other Study ID Numbers: NGLU-NH01
First Posted: November 18, 2014    Key Record Dates
Last Update Posted: February 3, 2017
Last Verified: February 2017

Keywords provided by Alexion Pharmaceuticals:
Mucopolysaccharodosis III
Mucopolysaccharidosis type IIIB
Sanfilippo Syndrome

Additional relevant MeSH terms:
Mucopolysaccharidosis III
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases