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

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ClinicalTrials.gov Identifier: NCT02090179
Recruitment Status : Completed
First Posted : March 18, 2014
Last Update Posted : June 27, 2016
Sponsor:
Information provided by (Responsible Party):
Alexion Pharmaceuticals

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).

Condition or disease
MPS IIIB (Sanfilippo B Syndrome)

Study Type : Observational
Actual Enrollment : 5 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official 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
Study Start Date : December 2013
Actual Primary Completion Date : May 2014
Actual Study Completion Date : May 2014


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



Primary Outcome Measures :
  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 Outcome Measures :
  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



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Ages Eligible for Study:   5 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Up to six subjects with MPS IIIB. An attempt will be made to enroll equal numbers (three) of MPS IIIB subjects with a classic (severe) disease presentation, and MPS IIIB subjects with an attenuated phenotype.
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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02090179


Locations
United Kingdom
Birmingham, United Kingdom
Sponsors and Collaborators
Alexion Pharmaceuticals

Responsible Party: Alexion Pharmaceuticals
ClinicalTrials.gov Identifier: NCT02090179     History of Changes
Other Study ID Numbers: NGLU-CL01
2013-001938-18 ( EudraCT Number )
First Posted: March 18, 2014    Key Record Dates
Last Update Posted: June 27, 2016
Last Verified: June 2016

Keywords provided by Alexion Pharmaceuticals:
MPS IIIB
Mucopolysaccharidosis
Mucopolysaccharidosis type IIIB
Sanfilippo Syndrome
Metabolism, Inborn Errors
Metabolic Diseases
Genetic Diseases, Inborn

Additional relevant MeSH terms:
Mucopolysaccharidosis III
Mucopolysaccharidoses
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Mucinoses
Connective Tissue Diseases
Metabolic Diseases