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A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

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ClinicalTrials.gov Identifier: NCT02493998
Recruitment Status : Completed
First Posted : July 10, 2015
Last Update Posted : March 6, 2020
Information provided by (Responsible Party):
Allievex Corporation

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.

Condition or disease
Mucopolysaccharidosis Type IIIB Mucopolysaccharidosis Type 3 B MPS III B MPS 3 B

Detailed Description:
This is a multicenter, multinational, longitudinal, observational study in subjects 1 through 10 years of age who have been diagnosed with MPS IIIB. Data will be prospectively collected from 20 to 30 subjects to understand the clinical progression of MPS IIIB in terms of neurocognitive function, behavior, quality of life, imaging characteristics, genotype, and biochemical markers of disease burden. This information may help inform the design and interpretation of subsequent interventional studies.

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Study Type : Observational
Actual Enrollment : 22 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)
Actual Study Start Date : November 2015
Actual Primary Completion Date : April 2019
Actual Study Completion Date : April 2019

Primary Outcome Measures :
  1. Neurocognitive function [ Time Frame: Screening, baseline, and every 12 weeks, for up to 48-96 weeks ]
    A neurodevelopmental assessment will be performed using standardized developmental tests to provide quantifiable measures of neurocognitive function.

  2. Imaging characteristics [ Time Frame: Baseline and every 24 weeks, for up to 48-96 weeks ]
    MRI will be used to assess changes in size of various organs affected by the disease, including brain, liver and spleen.

  3. Behavioral function [ Time Frame: Baseline and every 12 weeks, for up to 48-96 weeks ]
    Disease-related behaviors will be assessed using an MPS III-specific behavior rating scale.

  4. Hearing [ Time Frame: Baseline and every 24 weeks, for up to 48-96 weeks ]
    The function of conductive and sensorineural hearing pathways will be assessed using tympanometry and auditory brainstem response (ABR).

  5. Sleep habits [ Time Frame: Baseline and every 24 weeks, for up to 48-96 weeks ]
    Patient sleep habits will be assessed using specific questionnaires.

  6. Quality-of-life [ Time Frame: Baseline and every 24 weeks, for up to 48-96 weeks ]
    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.

  7. Biochemical, Molecular, Cellular and Genetic Markers of Disease Burden [ Time Frame: Baseline and every 24 weeks, for up to 48-96 weeks ]
    Blood, urine, and CSF samples will be used to evaluate biochemical, molecular cellular, and genetic/genomic aspects of MPS IIIB.

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Year to 10 Years   (Child)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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.


Inclusion Criteria:

  • 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

Exclusion Criteria:

  • 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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02493998

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United States, California
Children's Hospital and Research Center Oakland
Oakland, California, United States, 94609
Australia, Victoria
Melbourne Children's Trials Centre
Melbourne, Victoria, Australia
Fundacion Cardioinfantil-Instituto de Cardiologia
Bogota, Colombia
University Medical Center Hamburg Eppendorf, Department of Pediatrics
Hamburg, Germany
Hospital Clinico Universitario de Santiago
Santiago de Compostela, Spain
MacKay Memorial Children's Hospital
Taipei, Taiwan
Gazi University Faculty of Medicine
Ankara, Turkey
United Kingdom
Somers Clinical Research Facility, Great Ormond Street Hospital
London, United Kingdom
Sponsors and Collaborators
Allievex Corporation
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Study Director: Allievex Medical Monitor Allievex Corporation
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
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Responsible Party: Allievex Corporation
ClinicalTrials.gov Identifier: NCT02493998    
Other Study ID Numbers: 250-901
First Posted: July 10, 2015    Key Record Dates
Last Update Posted: March 6, 2020
Last Verified: March 2020
Keywords provided by Allievex Corporation:
Sanfilippo Syndrome Type B
Additional relevant MeSH terms:
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Mucopolysaccharidosis III
Carbohydrate Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Lysosomal Storage Diseases
Connective Tissue Diseases
Metabolic Diseases