A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
- Conditions
- Mucopolysaccharidosis Type IIIB
- Registration Number
- NCT03227042
- Lead Sponsor
- Allievex Corporation
- Brief Summary
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.
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ACTIVE_NOT_RECRUITING
- Sex
- All
- Target Recruitment
- 44
- 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
- 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
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Neurocognitive function Baseline + every 24 weeks for up to 240 weeks A neurodevelopmental assessment will be performed using standardized developmental tests to provide quantifiable measures of neurocognitive function.
Sleep habits Baseline + every 24 weeks for up to 240 weeks Patient sleep habits will be assessed using Children's Sleep Habits Questionnaires (CSHQ).
Disease-specific Biomarkers Baseline + every 24 weeks for up to 240 weeks Urine sample for glycosaminoglycans (GAGs) and creatinine.
Behavioral function Baseline + every 24 weeks for up to 240 weeks Disease-related behaviors will be assessed using an MPS IIIB specific behavior rating scale.
Quality of Life Tests Baseline + every 24 weeks for up to 240 weeks 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.
Biochemical, Molecular, Cellular and Genetic Markers of Disease Burden Once (at baseline visit) Blood and urine samples will be used to evaluate biochemical, molecular cellular, and genetic/genomic aspects of MPS IIIB.
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (9)
Murdoch Childrens Research Institute and Royal Children's Hospital
🇦🇺Melbourne, Victoria, Australia
Fundación Cardio Infantil - Instituto de CardiologÃa
🇨🇴Bogotá, Colombia
UCSF Benioff Children's Hospital Oakland
🇺🇸Oakland, California, United States
Medical Genetics Service/HCPA, Department of Genetics/UFRGS
🇧🇷Pôrto Alegre, Rio Grande Do Sul, Brazil
Hospital Universitario Austral
🇦🇷Pilar, Argentina
University Medical Center Hamburg-Eppendorf
🇩🇪Hamburg, Germany
Hospital ClÃnico Universitario de Santiago
🇪🇸Santiago de Compostela, A Coruña, Spain
MacKay Memorial Children's Hospital
🇨🇳Taipei, Taiwan
Gazi University Faculty of Medicine
🇹🇷Ankara, Turkey