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OpenTrials
Completed

NCT Number: NCT02090179

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

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).

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Key information

Conditions

MPS IIIB (Sanfilippo B Syndrome) Carbohydrate Metabolism, Inborn Errors Congenital, Hereditary, and Neonatal Diseases and Abnormalities Connective Tissue Diseases Genetic Diseases, Inborn Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Mucinoses Mucopolysaccharidoses Mucopolysaccharidosis III Nutritional and Metabolic Diseases Skin and Connective Tissue Diseases

Age range

5 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Birmingham, United Kingdom

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Primary outcomes

  1. Blood Brain Barrier integrity in MPS IIIB subjects

    Time frame: Day 0

    Blood Brain Barrier integrity in MPS IIIB subjects by estimating the CSF-AI.

  2. Blood Brain Barrier transfer coefficient

    Time frame: Day 0

    The Blood Brain Barrier transfer coefficient will be measured by DCE-MRI in MPS IIIB subjects.

Secondary outcomes

  1. Structural brain abnormalities in MPS IIIB

    Time frame: Day 0

    Structural brain abnormalities in MPS IIIB using imaging and biomarkers related to underlying disease biology of MPS IIIB subjects

Sponsors and collaborators

Lead sponsor

Alexion Pharmaceuticals, Inc.

Industry

Registry information

Official study title

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

Important dates

Study start
2013
Primary completion
2014
Study completion
2014
First posted
Mar 18, 2014
Registry last updated
Jun 27, 2016

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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