A Retrospective Chart Review of Deceased Patients With Mucopolysaccharidosis Type IIIB

Alexion Pharmaceuticals

Status: Completed

Conditions: MPS IIIB (Sanfilippo Syndrome)

Study type: Observational

Funder types: Industry

Identifiers

NCT02293382

NGLU-NH01

Details and patient eligibility

About

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.

Enrollment: 30 patients

Sex: All

Volunteers: No Healthy Volunteers

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.