MPS IIIB (Sanfilippo Syndrome)
Conditions
Keywords
MPS IIIB, Mucopolysaccharodosis III, Mucopolysaccharidosis type IIIB, Sanfilippo Syndrome
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.
Interventions
None listed
Sponsors
Alexion Pharmaceuticals, Inc.
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. | 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. |
Countries
Brazil, Netherlands, Spain, United Kingdom, United States
Outcome results
None listed