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

June 23, 2016 updated by: Alexion Pharmaceuticals

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

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).

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

5

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

5 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Day 0
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.
Day 0

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Day 0

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Alexion Pharmaceuticals

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

December 1, 2013

Primary Completion (Actual)

May 1, 2014

Study Completion (Actual)

May 1, 2014

Study Registration Dates

First Submitted

March 12, 2014

First Submitted That Met QC Criteria

March 14, 2014

First Posted (Estimate)

March 18, 2014

Study Record Updates

Last Update Posted (Estimate)

June 27, 2016

Last Update Submitted That Met QC Criteria

June 23, 2016

Last Verified

June 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • NGLU-CL01
  • 2013-001938-18 (EudraCT Number)

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on MPS IIIB (Sanfilippo B Syndrome)

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Uzbekistan

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

Subscribe