Evaluation of Blood Brain Barrier Integrity and Relationship to Structural Brain Abnormalities in MPS IIIB Patients Using Cerebrospinal Fluid/Serum Albumin Index (CSF-AI) and Multimodal Magnetic Resonance Imaging

Alexion Pharmaceuticals, Inc.0 sites5 target enrollmentDecember 2013

ConditionsMPS IIIB (Sanfilippo B Syndrome)

Overview

Phase: Not Applicable
Intervention: Not specified
Conditions: MPS IIIB (Sanfilippo B Syndrome)
Sponsor: Alexion Pharmaceuticals, Inc.
Enrollment: 5
Primary Endpoint: Blood Brain Barrier integrity in MPS IIIB subjects
Status: Completed
Last Updated: 9 years ago

Overview Investigators Eligibility Criteria Outcomes Similar Trials

Overview

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).

Registry

clinicaltrials.gov

Start Date

December 2013

End Date

May 2014

Last Updated

9 years ago

Study Type

Observational

Sex

All

Investigators

Sponsor

Alexion Pharmaceuticals, Inc.

Responsible Party

Sponsor

Eligibility Criteria

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.