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Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)

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Disease Information

Descriptive Information
Brief Title † Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)
Official Title † An Observational Prospective Natural History Study of Patients With Mucopolysaccharidosis Type IIIB (MPS IIIB, Sanfilippo Syndrome Type B)
Brief Summary The purpose of this study is to evaluate the natural course of disease progression in Mucopolysaccharidosis Type III (MPS IIIB) patients who are untreated to identify potential surrogate endpoints that may be utilized in future treatment trials of MPS IIIB using predefined assessments including standardized clinical, biochemical, neurocognitive, developmental, and imaging measures.
Detailed Description This is a multicenter longitudinal, prospective, natural history study of patients with MPSIIIB designed to identify potential surrogate endpoints that may be utilized in future Enzyme replacement therapy (ERT) trials of MPS IIIB via defined assessments including standardized clinical, biochemical, neurocognitive, development, and imaging measures.
Study Phase N/A
Study Type † Observational
Study Design † Observational Model: Cohort, Time Perspective: Prospective
Primary Outcome Measure † evaluate the course of disease progression in patients with MPS IIIB who are untreated with any investigational products to inform possible future treatment studies
Secondary Outcome Measure †
Condition † Sanfilippo Syndrome Type B
Intervention †
Study Arms / Comparison Groups No treatment This is a longitudinal, prospective, observational, natural history study of patients with MPS IIIB to identify endpoints that may be used for future ERT trials via standardized clinical, biochemical, neurocognitive, developmental, behavioral and imaging measures
Publications *

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information
Recruitment Status †
Estimated Enrollment † 19
Start Date † March 2012
Completion Date November 2014
Primary Completion Date November 2014
Eligibility Criteria † Inclusion Criteria: Each patient must meet all of the following criteria to be enrolled in this study. 1. Definitive diagnosis of MPS IIIB, as determined by one of the following: 1. Documented deficiency in alpha-N-acetylglucosaminidase (NAGLU) enzyme activity of ≤10% of the lower limit of the normal range as measured in fibroblasts, leukocytes, plasma, or serum (based on normal range for diagnosis of MPS IIIB). Patients who do not already have a documented deficiency of NAGLU activity will provide a blood sample during screening for determination of NAGLU activity level in their serum. OR 2. Two documented mutations in the NAGLU gene. Patients who do not already have a documented genotype of NAGLU will provide a blood sample during screening for NAGLU genotyping. 2. The patient is ≥1 and
Gender Both
Ages 1 Year - 10 Years
Accepts Healthy Volunteers No
Contacts ††
Location Countries † United States
Administrative Information
NCT ID † NCT01509768
Organization ID HGT-SNB-088
Secondary IDs ††
Responsible Party Sponsor
Study Sponsor † Shire
Collaborators ††
Investigators † Study Director: Ann Barbier, M.D., Shire
Information Provided By
Verification Date November 2014
First Received Date † January 10, 2012
Last Updated Date November 24, 2014
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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