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

MPS IIIB (Sanfilippo B Syndrome) Clinical Trial

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02090179
• Other study ID #: NGLU-CL01
• Secondary ID: 2013-001938-18
• Status: Completed
• Phase: N/A
• First received: March 12, 2014
• Last updated: June 23, 2016
• Start date: December 2013
• Est. completion date: May 2014

Study information

• Verified date: June 2016
• Source: Alexion Pharmaceuticals
• Contact: n/a
• Is FDA regulated: No
• Health authority: United Kingdom: National Health Service
• Study type: Observational

Clinical Trial 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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 5
• Est. completion date: May 2014
• Est. primary completion date: May 2014
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 5 Years and older

Eligibility

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 Design

Observational Model: Case-Only, Time Perspective: Prospective

Related Conditions & MeSH terms

• MPS IIIB (Sanfilippo B Syndrome)

Locations

Country	Name	City	State
n/a

Sponsors (1)

Lead Sponsor	Collaborator
Alexion Pharmaceuticals

Country where clinical trial is conducted

United Kingdom, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Blood Brain Barrier integrity in MPS IIIB subjects	Blood Brain Barrier integrity in MPS IIIB subjects by estimating the CSF-AI.	Day 0	No
Primary	Blood Brain Barrier transfer coefficient	The Blood Brain Barrier transfer coefficient will be measured by DCE-MRI in MPS IIIB subjects.	Day 0	No
Secondary	Structural brain abnormalities in MPS IIIB	Structural brain abnormalities in MPS IIIB using imaging and biomarkers related to underlying disease biology of MPS IIIB subjects	Day 0	No