Clinical trial NCT03227042: A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
Official title: A Prospective Natural History Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Mucopolysaccharidosis Type IIIB
Keywords: Sanfilippo Syndrome Type B
MPS IIIB
MPS 3 B
Lead sponsor: Allievex Corporation
Sponsor class: INDUSTRY
First posted: 2017-07-24
Enrollment: 44
Sex: ALL
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: OTHER
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Males and Females with a documented diagnosis of MPSIIIB

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.


Eligibility criteria: 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

Primary outcomes:
measure: Neurocognitive function
timeFrame: Baseline + every 24 weeks for up to 240 weeks
measure: Behavioral function
timeFrame: Baseline + every 24 weeks for up to 240 weeks
measure: Quality of Life Tests
timeFrame: Baseline + every 24 weeks for up to 240 weeks
measure: Sleep habits
timeFrame: Baseline + every 24 weeks for up to 240 weeks
measure: Disease-specific Biomarkers
timeFrame: Baseline + every 24 weeks for up to 240 weeks
measure: Biochemical, Molecular, Cellular and Genetic Markers of Disease Burden
timeFrame: Once (at baseline visit)
Secondary outcomes:
Other outcomes:
Locations:
city: Oakland
country: United States
facility: UCSF Benioff Children's Hospital Oakland
state: California
city: Pilar
country: Argentina
facility: Hospital Universitario Austral
city: Melbourne
country: Australia
facility: Murdoch Childrens Research Institute and Royal Children's Hospital
state: Victoria
city: Pôrto Alegre
country: Brazil
facility: Medical Genetics Service/HCPA, Department of Genetics/UFRGS
state: Rio Grande Do Sul
city: Bogotá
country: Colombia
facility: Fundación Cardio Infantil - Instituto de Cardiología
city: Hamburg
country: Germany
facility: University Medical Center Hamburg-Eppendorf
city: Santiago de Compostela
country: Spain
facility: Hospital Clínico Universitario de Santiago
state: A Coruña
city: Taipei
country: Taiwan
facility: MacKay Memorial Children's Hospital
city: Ankara
country: Turkey
facility: Gazi University Faculty of Medicine
Study officials:
affiliation: Allievex Medical Monitor
name: Medical Director, MD
role: STUDY_DIRECTOR
References:
citation: 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.