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

NCT03227042 | Unknown DMC

• 1 other identifier: 250-902
• Study Type: observational
• Target: 44
• Locations: 9 countries
• Sites: 9

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.

Conditions

Mucopolysaccharidosis Type IIIB

Keywords

Sanfilippo Syndrome Type B; MPS IIIB; MPS 3 B

Outcome Measures

Primary Outcomes (6)

• 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)

Eligibility Criteria

• Age: Up to 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Males and Females with a documented diagnosis of MPSIIIB

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Allievex Corporation: lead

Study Sites (9)

UCSF Benioff Children's Hospital Oakland

Oakland, California, 94609, United States

Location

Hospital Universitario Austral

Pilar, B1629AHJ, Argentina

Location

Murdoch Childrens Research Institute and Royal Children's Hospital

Melbourne, Victoria, 3052, Australia

Location

Medical Genetics Service/HCPA, Department of Genetics/UFRGS

Pôrto Alegre, Rio Grande do Sul, 90035-903, Brazil

Location

Fundación Cardio Infantil - Instituto de Cardiología

Bogotá, Colombia

Location

University Medical Center Hamburg-Eppendorf

Hamburg, 20246, Germany

Location

Hospital Clínico Universitario de Santiago

Santiago de Compostela, A Coruña, 15706, Spain

Location

MacKay Memorial Children's Hospital

Taipei, 10449, Taiwan

Location

Gazi University Faculty of Medicine

Ankara, 06560, Turkey (Türkiye)

Location

Related Publications (1)

• 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.

  PMID: 35709957 DERIVED

MeSH Terms

Conditions

Mucopolysaccharidosis III

Condition Hierarchy (Ancestors)

Mucopolysaccharidoses; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Lysosomal Storage Diseases; Mucinoses; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases

Study Officials

• Medical Director, MD

  Allievex Medical Monitor

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 11, 2017
• First Posted: July 24, 2017
• Study Start: November 16, 2017
• Primary Completion: October 1, 2025
• Study Completion: December 1, 2025
• Last Updated: October 26, 2022

Record last verified: 2022-10

Locations

US (1); DE (1); CO (1); TU (1); AU (1); BR (1); ES (1); TW (1); AR (1)