A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

Study Overview
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Brief Summary
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This is a natural history study for children up to 18 years of age who have been diagnosed with Mucopolysaccharidosis Type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B). Mucopolysaccharidosis type IIIB is a severe neurodegenerative disorder. The information gathered from this trial may help inform the design and interpretation of subsequent interventional studies. No clinical intervention or study drug is provided by Allievex in this study.

Official Title
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A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

Conditions
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Mucopolysaccharidosis Type IIIB

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Have deficient NAGLU enzyme activity at Baseline. Blood for NAGLU enzyme activity will be collected and analyzed centrally. Is up to 18 years of age Written informed consent from parent or legal guardian and assent from subject, if required Has the ability to comply with protocol requirements, in the opinion of the investigator Exclusion Criteria: Has another neurological illness that may have caused cognitive decline (e.g., trauma, meningitis, or hemorrhage) before study entry Has received stem cell, gene therapy, or enzyme replacement therapy for MPS IIIB Has received any investigational medication within 30 days prior to the Baseline visit or is scheduled to receive any investigational drug during the course of the study Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with protocol requirements, the subject's wellbeing or safety, or the interpretability of the subject's clinical data. Is currently participating in another natural history study

Ages Eligible for Study
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Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Neurocognitive function | A neurodevelopmental assessment will be performed using standardized developmental tests to provide quantifiable measures of neurocognitive function. | Baseline + every 24 weeks for up to 240 weeks | 
| Behavioral function | Disease-related behaviors will be assessed using an MPS IIIB specific behavior rating scale. | Baseline + every 24 weeks for up to 240 weeks | 
| Quality of Life Tests | Multiple QoL tools will be used to capture physical, mental, and social well-being of the patient as well as to examine the impact of the patient's disease on the parent/guardian and family. | Baseline + every 24 weeks for up to 240 weeks | 
| Sleep habits | Patient sleep habits will be assessed using Children's Sleep Habits Questionnaires (CSHQ). | Baseline + every 24 weeks for up to 240 weeks | 
| Disease-specific Biomarkers | Urine sample for glycosaminoglycans (GAGs) and creatinine. | Baseline + every 24 weeks for up to 240 weeks | 
| Biochemical, Molecular, Cellular and Genetic Markers of Disease Burden | Blood and urine samples will be used to evaluate biochemical, molecular cellular, and genetic/genomic aspects of MPS IIIB. | Once (at baseline visit) | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Sanfilippo Syndrome Type B, MPS IIIB, MPS 3 B