Clinical Trial: A Study of Mucopolysaccharidosis Type IIIB (MPS IIIB)

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

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

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.

Detailed Summary: 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.
Sponsor: BioMarin Pharmaceutical

Current Primary Outcome:

  • 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, Molec

    Original Primary Outcome: Same as current

    Current Secondary Outcome:

    Original Secondary Outcome:

    Information By: BioMarin Pharmaceutical

    Dates:
    Date Received: June 22, 2015
    Date Started: November 2015
    Date Completion:
    Last Updated: October 25, 2016
    Last Verified: October 2016