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

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02090179

Enrollment

Registered

2014-03-18

Start date

2013-12-31

Completion date

2014-05-31

Last updated

2016-06-27

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

MPS IIIB (Sanfilippo B Syndrome)

Keywords

MPS IIIB, Mucopolysaccharidosis, Mucopolysaccharidosis type IIIB, Sanfilippo Syndrome, Metabolism, Inborn Errors, Metabolic Diseases, Genetic Diseases, Inborn

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).

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

5 Years to No maximum

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.

Design outcomes

Primary

Measure	Time frame	Description
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

Measure	Time frame	Description
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

Countries

United Kingdom

Outcome results