Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging

Completed

• Conditions: MPS IIIB (Sanfilippo B Syndrome)

• Registration Number: NCT02090179
• Lead Sponsor: Alexion Pharmaceuticals, Inc.

Brief Summary

The purpose of the study is to characterize structural abnormalities in the brain and the integrity of the blood brain barrier in patients with mucopolysaccharidosis type IIIB (MPS IIIB).

Detailed Description

Not available

Study Timeline

• Study Start: 2013-12
• Study First Submitted: 2014-03-12
• Study First Submitted QC: 2014-03-14
• Study First Posted: 2014-03-18
• Primary Completion: 2014-05
• Study Completion: 2014-05
• Status Verified: 2016-06
• Last Update Submitted: 2016-06-23
• Last Update Posted: 2016-06-27

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 5

Inclusion Criteria

• Subject and/or subject's parent or legal guardian provides informed consent
• Subject is ≥5 years of age.
• Subject has a definitive diagnosis of MPS IIIB, as determined by either a documented deficiency in alpha-N-acetylglucosaminidase (NAGLU) enzyme activity or documented functionally-relevant mutations in both alleles of the NAGLU gene.

Exclusion Criteria

• The subject has any internal or non-removable external metal items that may present a safety risk (for MRI), or any other medical condition or circumstance in which an MRI is contraindicated.
• The subject has a known or suspected hypersensitivity to anaesthesia, a bleeding disorder, or any other medical condition or circumstance in which a lumbar puncture (for collection of CSF) is contraindicated.
• Previous allergic reaction to gadolinium-based MRI contrast media.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Blood Brain Barrier integrity in MPS IIIB subjects	Day 0	Blood Brain Barrier integrity in MPS IIIB subjects by estimating the CSF-AI.
Blood Brain Barrier transfer coefficient	Day 0	The Blood Brain Barrier transfer coefficient will be measured by DCE-MRI in MPS IIIB subjects.

Secondary Outcome Measures

Name	Time	Method
Structural brain abnormalities in MPS IIIB	Day 0	Structural brain abnormalities in MPS IIIB using imaging and biomarkers related to underlying disease biology of MPS IIIB subjects