Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
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.
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| 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) |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Males and Females with a documented diagnosis of MPSIIIB
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Medical Director, MD | Allievex Medical Monitor | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UCSF Benioff Children's Hospital Oakland | Oakland | California | 94609 | United States | ||
| Hospital Universitario Austral |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 35709957 | Derived | Okur I, Ezgu F, Giugliani R, Muschol N, Koehn A, Amartino H, Harmatz P, de Castro Lopez MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Peters H, Lee J, Nestrasil I, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E. Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB. J Pediatr. 2022 Oct;249:50-58.e2. doi: 10.1016/j.jpeds.2022.06.005. Epub 2022 Jun 13. |
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| ID | Term |
|---|---|
| D009084 | Mucopolysaccharidosis III |
| ID | Term |
|---|---|
| D009083 | Mucopolysaccharidoses |
| D002239 | Carbohydrate Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
Not provided
Not provided
Not provided
Not provided
Not provided
| Pilar |
| B1629AHJ |
| Argentina |
| Murdoch Childrens Research Institute and Royal Children's Hospital | Melbourne | Victoria | 3052 | Australia |
| Medical Genetics Service/HCPA, Department of Genetics/UFRGS | Pôrto Alegre | Rio Grande do Sul | 90035-903 | Brazil |
| Fundación Cardio Infantil - Instituto de Cardiología | Bogotá | Colombia |
| University Medical Center Hamburg-Eppendorf | Hamburg | 20246 | Germany |
| Hospital Clínico Universitario de Santiago | Santiago de Compostela | A Coruña | 15706 | Spain |
| MacKay Memorial Children's Hospital | Taipei | 10449 | Taiwan |
| Gazi University Faculty of Medicine | Ankara | 06560 | Turkey (Türkiye) |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D016464 | Lysosomal Storage Diseases |
| D017520 | Mucinoses |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |