A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

NCT02493998 | Completed

• 1 other identifier: 250-901
• Study Type: observational
• Target: 22
• Locations: 8 countries
• Sites: 8

Brief Summary

Mucopolysaccharidosis type IIIB (MPS IIIB, also known as Sanfilippo Syndrome Type B) is a severe neurodegenerative disorder. The purpose of this study is to learn more about the health problems in patients with MPS IIIB and how to measure these problems over time. It will particularly look at how the disease develops in young children. This is an observational study, so no experimental drug will be given. The results from this study will help us design future studies to measure whether these health problems get better when we give experimental drug for MPS IIIB.

Conditions

Mucopolysaccharidosis Type IIIB; Mucopolysaccharidosis Type 3 B; MPS III B; MPS 3 B

Keywords

Sanfilippo Syndrome Type B

Outcome Measures

Primary Outcomes (7)

• Neurocognitive function

  A neurodevelopmental assessment will be performed using standardized developmental tests to provide quantifiable measures of neurocognitive function.

  Screening, baseline, and every 12 weeks, for up to 48-96 weeks

• Imaging characteristics

  MRI will be used to assess changes in size of various organs affected by the disease, including brain, liver and spleen.

  Baseline and every 24 weeks, for up to 48-96 weeks

• Behavioral function

  Disease-related behaviors will be assessed using an MPS III-specific behavior rating scale.

  Baseline and every 12 weeks, for up to 48-96 weeks

• Hearing

  The function of conductive and sensorineural hearing pathways will be assessed using tympanometry and auditory brainstem response (ABR).

  Baseline and every 24 weeks, for up to 48-96 weeks

• Sleep habits

  Patient sleep habits will be assessed using specific questionnaires.

  Baseline and every 24 weeks, for up to 48-96 weeks

• Quality-of-life

  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 and every 24 weeks, for up to 48-96 weeks

• Biochemical, Molecular, Cellular and Genetic Markers of Disease Burden

  Blood, urine, and CSF samples will be used to evaluate biochemical, molecular cellular, and genetic/genomic aspects of MPS IIIB.

  Baseline and every 24 weeks, for up to 48-96 weeks

Eligibility Criteria

• Age: 1 Year - 10 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

Study Population: Subjects diagnosed with MPS IIIB Males and females 1 through 10 years of age (ie, until they turn 11) with a documented diagnosis of MPS IIIB are eligible to participate in this observational study. Up to approximately 5 subjects 6 to 10 years old, inclusive, will be enrolled; the remaining subjects will be 1 to 5 years old, inclusive. Additional entry criteria follow.

You may qualify if:

• Individuals eligible to participate in this study must meet all of the following criteria:
• Has deficient NAGLU enzyme activity at Screening. Blood for NAGLU enzyme activity will be collected and analyzed centrally.
• Is ≥ 1 and ≤ 10 years of age and has an age-equivalent of ≥ 12 months on the VABS-II
• DQ ≥ 50 (determined by BSID-III or KABC-II)
• Has presented with signs/symptoms consistent with MPS IIIB; for individuals who have not presented with signs/symptoms of disease (e.g., siblings of known patients), the determination of eligibility will be at the discretion of the BioMarin medical monitor in conjunction with the site investigator.
• 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
• Requires ventilation support, except for noninvasive support at night
• Has received stem cell, gene therapy or ERT for MPS IIIB
• Has contraindications for neurosurgery (e.g., congenital heart disease, severe respiratory impairment, or clotting abnormalities)
• Has contraindications for MRI scans (e.g., cardiac pacemaker, metal fragment or chip in the eye, or aneurysm clip in the brain)
• Has a history of poorly controlled seizure disorder
• Is prone to complications from intraventricular drug administration, including patients with hydrocephalus or ventricular shunts
• 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.

Sponsors & Collaborators

• Allievex Corporation: lead

Study Sites (8)

Children's Hospital and Research Center Oakland

Oakland, California, 94609, United States

Location

Melbourne Children's Trials Centre

Melbourne, Victoria, Australia

Location

Fundacion Cardioinfantil-Instituto de Cardiologia

Bogotá, Colombia

Location

University Medical Center Hamburg Eppendorf, Department of Pediatrics

Hamburg, Germany

Location

Hospital Clinico Universitario de Santiago

Santiago de Compostela, Spain

Location

MacKay Memorial Children's Hospital

Taipei, Taiwan

Location

Gazi University Faculty of Medicine

Ankara, Turkey (Türkiye)

Location

Somers Clinical Research Facility, Great Ormond Street Hospital

London, United Kingdom

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

• Allievex Medical Monitor

  Allievex Corporation

  STUDY DIRECTOR

Study Design

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

Study Record Dates

• First Submitted: June 22, 2015
• First Posted: July 10, 2015
• Study Start: November 1, 2015
• Primary Completion: April 1, 2019
• Study Completion: April 1, 2019
• Last Updated: March 6, 2020

Record last verified: 2020-03

Locations

US (1); DE (1); CO (1); TU (1); GB (1); AU (1); TW (1); ES (1)