A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

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.

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Key information

Conditions

MPS IIIB (Sanfilippo Syndrome) Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Mucinoses Mucopolysaccharidoses Mucopolysaccharidosis III Nutritional and Metabolic Diseases Skin and Connective Tissue Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Porte Alegre, Brazil

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

The deceased patient was diagnosed with MPS IIIB as determined by either of the following:

Documented deficiency of NAGLU enzyme activity.
Documented functionally-relevant mutations in both alleles of the NAGLU gene.
Patient's parent or legal guardian provides informed consent (unless the requirement for informed consent is waived by local regulations).
The availability of pre-defined information in the patient's clinical chart:

Exclusion criteria

There are no exclusion criteria for this study.

Treatment and study plan

Primary outcomes

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.

Sponsors and collaborators

Lead sponsor

Alexion Pharmaceuticals, Inc.

Industry

Registry information

Important dates

Study start: 2013
Primary completion: 2015
Study completion: 2015
First posted: Nov 18, 2014
Registry last updated: Feb 3, 2017

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed