Mucopolysaccharidosis Type IIIB
Conditions
Keywords
Sanfilippo Syndrome Type B, MPS IIIB, MPS 3 B
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.
Interventions
None listed
Sponsors
Allievex Corporation
Study design
Observational model
OTHER
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 18 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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. |
| 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. |
| 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. |
Countries
Argentina, Australia, Brazil, Colombia, Germany, Spain, Taiwan, Turkey (Türkiye), United States
Outcome results
None listed