Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Usi… (NCT02090179) | Clinical Trial Compass
CompletedNot Applicable
Evaluation of Blood Brain Barrier Integrity and Structural Abnormalities in MPS IIIB Patients Using Multimodal Magnetic Resonance Imaging
United Kingdom5 participantsStarted 2013-12
Plain-language 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).
Who can participate
Age range5 Years
SexALL
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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.
What they're measuring
1
Blood Brain Barrier integrity in MPS IIIB subjects