A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB
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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.
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Ages Eligible for Study:
Child, Adult, Senior
Sexes Eligible for Study:
Accepts Healthy Volunteers:
30 deceased patients with MPS IIIB
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: