A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

March 4, 2020 updated by: Allievex Corporation

A Prospective, Observational Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

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.

Study Overview

Status

Completed

Conditions

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.

Study Type

Observational

Enrollment (Actual)

22

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • Australia
    • Victoria
      • Melbourne, Victoria, Australia
        • Melbourne Children's Trials Centre
  • Colombia
      • Bogota, Colombia
        • Fundación Cardioinfantil-Instituto de Cardiología
  • Germany
      • Hamburg, Germany
        • University Medical Center Hamburg Eppendorf, Department of Pediatrics
  • Spain
      • Santiago de Compostela, Spain
        • Hospital Clinico Universitario de Santiago
  • Taiwan
      • Taipei, Taiwan
        • MacKay Memorial Children's Hospital
  • Turkey
      • Ankara, Turkey
        • Gazi University Faculty of Medicine
  • United Kingdom
      • London, United Kingdom
        • Somers Clinical Research Facility, Great Ormond Street Hospital
  • United States
    • California
      • Oakland, California, United States, 94609
        • Children's Hospital and Research Center Oakland

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year to 10 years (Child)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
Screening, baseline, and every 12 weeks, for up to 48-96 weeks
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.
Baseline and every 24 weeks, for up to 48-96 weeks
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.
Baseline and every 12 weeks, for up to 48-96 weeks
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).
Baseline and every 24 weeks, for up to 48-96 weeks
Sleep habits
Time Frame: Baseline and every 24 weeks, for up to 48-96 weeks
Patient sleep habits will be assessed using specific questionnaires.
Baseline and every 24 weeks, for up to 48-96 weeks
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.
Baseline and every 24 weeks, for up to 48-96 weeks
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.
Baseline and every 24 weeks, for up to 48-96 weeks

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Allievex Corporation

Investigators

  • Study Director: Allievex Medical Monitor, Allievex Corporation

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 1, 2015

Primary Completion (Actual)

April 1, 2019

Study Completion (Actual)

April 1, 2019

Study Registration Dates

First Submitted

June 22, 2015

First Submitted That Met QC Criteria

July 7, 2015

First Posted (Estimate)

July 10, 2015

Study Record Updates

Last Update Posted (Actual)

March 6, 2020

Last Update Submitted That Met QC Criteria

March 4, 2020

Last Verified

March 1, 2020

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 250-901

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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