NL-OMON38912
Withdrawn
Not Applicable
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 - Synageva NGLU-CL01
Synegeva0 sites6 target enrollmentTBD
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Sanfilippo B
- Sponsor
- Synegeva
- Enrollment
- 6
- Status
- Withdrawn
- Last Updated
- 2 years ago
Overview
Brief Summary
No summary available.
Investigators
Eligibility Criteria
Inclusion Criteria
- •A patient must meet all of the following inclusion criteria to be eligible to participate in this study:
- •1\. The patient is \*5 years of age.
- •2\. The patient has a definitive diagnosis of MPS IIIB, as determined by the patient meeting the criteria outlined in both (a) and (b):
- •a. Documented deficiency in alpha\-N\-acetylglucosaminidase (NAGLU) enzyme activity of \*10% of the lower limit of the normal range (Heron, 2011\) based on a historical test result from a local laboratory.
- •Documented functionally\-relevant mutations in both alleles of the NAGLU gene based on a historical test result from a local laboratory.
- •b. Screening result for NAGLU enzyme activity, performed by a qualified laboratory, confirms the diagnosis of MPS IIIB.
- •3\. The patient or the patient\*s parent(s) or legal guardian understands the full nature and purpose of the study, including possible risks of study procedures, and provides informed consent prior to any study procedures being performed.
- •4\. The patient is willing and able to comply with protocol requirements to the extent that may be expected of a patient with cognitive impairment.
- •5\. The Investigator considers the patient to be a suitable candidate based on the patient's clinical status and ability to comply with study procedures.
Exclusion Criteria
- •A patient who meets any of the following exclusion criteria will be ineligible to participate of this study:
- •1\. The patient 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 according to local institutional policy.
- •2\. The patient 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 according to local institutional policy.
- •3\. The patient had a previous allergic reaction to gadolinium\-based MRI contrast media.
- •4\. The patient has impaired renal function, i.e., a stable estimated glomerular filtration rate \<60% of age\-adjusted normal value, as calculated based on the Schwartz formula.
- •5\. The patient has poor venous access or poor tolerance for blood draws that would make multiple venapunctures impractical.
- •6\. In the opinion of the Investigator, the patient has any other prior or ongoing medical condition that may present a safety risk, interfere with study compliance, or confound data interpretation.
Outcomes
Primary Outcomes
Not specified
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