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

Alexion Pharmaceuticals

Status: Completed

Conditions: MPS IIIB (Sanfilippo B Syndrome)

Study type: Observational

Funder types: Industry

Identifiers

NCT02090179

2013-001938-18 (EudraCT Number)

NGLU-CL01

Details and patient eligibility

About

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).

Enrollment: 5 patients

Sex: All

Ages: 5+ years old

Volunteers: No Healthy Volunteers

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.

Trial design

5 participants in 1 patient group

MPS IIIB

Description:

Those with a definitive diagnosis of MPS IIIB (Sanfilippo B Syndrome).