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

Mucopolysaccharidosis Type IIIB Clinical Trial

Official title:

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

Clinical Trial Details — Status: Active, not recruiting

Administrative data

• NCT number: NCT03227042
• Other study ID #: 250-902
• Status: Active, not recruiting
• Start date: November 16, 2017
• Est. completion date: December 2025

Study information

• Verified date: October 2022
• Source: Allievex Corporation
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Active, not recruiting
• Enrollment: 44
• Est. completion date: December 2025
• Est. primary completion date: October 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 18 Years

Eligibility

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

Related Conditions & MeSH terms

• Mucopolysaccharidoses
• Mucopolysaccharidosis III
• Mucopolysaccharidosis Type IIIB

Locations

Country	Name	City	State
Argentina	Hospital Universitario Austral	Pilar
Australia	Murdoch Childrens Research Institute and Royal Children's Hospital	Melbourne	Victoria
Brazil	Medical Genetics Service/HCPA, Department of Genetics/UFRGS	Pôrto Alegre	Rio Grande Do Sul
Colombia	Fundación Cardio Infantil - Instituto de Cardiología	Bogotá
Germany	University Medical Center Hamburg-Eppendorf	Hamburg
Spain	Hospital Clínico Universitario de Santiago	Santiago de Compostela	A Coruña
Taiwan	MacKay Memorial Children's Hospital	Taipei
Turkey	Gazi University Faculty of Medicine	Ankara
United States	UCSF Benioff Children's Hospital Oakland	Oakland	California

Sponsors (1)

Lead Sponsor	Collaborator
Allievex Corporation

Countries where clinical trial is conducted

United States,  Argentina,  Australia,  Brazil,  Colombia,  Germany,  Spain,  Taiwan,  Turkey, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	Sleep habits	Patient sleep habits will be assessed using Children's Sleep Habits Questionnaires (CSHQ).	Baseline + every 24 weeks for up to 240 weeks
Primary	Disease-specific Biomarkers	Urine sample for glycosaminoglycans (GAGs) and creatinine.	Baseline + every 24 weeks for up to 240 weeks
Primary	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)