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
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|Condition or disease|
|Mucopolysaccharidosis Type IIIB Mucopolysaccharidosis Type 3 B MPS III B MPS 3 B|
|Study Type :||Observational|
|Actual Enrollment :||22 participants|
|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|
- 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.
- 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.
- 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.
- 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).
- Sleep habits [ Time Frame: Baseline and every 24 weeks, for up to 48-96 weeks ]Patient sleep habits will be assessed using specific questionnaires.
- 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.
- 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.
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
|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: 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.
- 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
- 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.
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
|United States, California|
|Children's Hospital and Research Center Oakland|
|Oakland, California, United States, 94609|
|Melbourne Children's Trials Centre|
|Melbourne, Victoria, Australia|
|Fundacion Cardioinfantil-Instituto de Cardiologia|
|University Medical Center Hamburg Eppendorf, Department of Pediatrics|
|Hospital Clinico Universitario de Santiago|
|Santiago de Compostela, Spain|
|MacKay Memorial Children's Hospital|
|Gazi University Faculty of Medicine|
|Somers Clinical Research Facility, Great Ormond Street Hospital|
|London, United Kingdom|
|Study Director:||Allievex Medical Monitor||Allievex Corporation|
|Responsible Party:||Allievex Corporation|
|Other Study ID Numbers:||
|First Posted:||July 10, 2015 Key Record Dates|
|Last Update Posted:||March 6, 2020|
|Last Verified:||March 2020|
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