Clinical Trial: Natural History Studies of Mucopolysaccharidosis III

Study Status: Completed
Recruit Status: Completed
Study Type: Observational

Official Title: Natural History Studies of Mucopolysaccharidosis III

Brief Summary: The purpose of this study is to assess rates of decline in motor and cognitive functional measures, and to assess potential biomarkers, in order to identify potential outcome measure appropriate for use in therapeutic clinical trials.

Detailed Summary:

Mucopolysaccharidosis (MPS) type III (Sanfilippo syndrome) is a group of four devastating genetic diseases that result in the abnormal accumulation of glycosaminoglycans in body tissues. In MPSIII the predominant symptoms occur due to accumulation within the central nervous system (CNS), including the brain and spinal cord, resulting in cognitive decline, motor dysfunction, and eventual death.

In anticipation for future therapeutic studies for MPSIIIA and MPSIIIB, we are performing a natural history study to identify the following:

  1. Individual rates of decline in motor and cognitive function in a cohort of potential clinical trial patients
  2. The natural history of outcome measures in order to assess their appropriateness as outcomes in an eventual trial
  3. Baseline functional data in patients who will be potential candidates for an eventual trial
  4. Biomarkers of disease progression over a 12-month interval, including changes in brain MRI and in cerebrospinal fluid

Patients in this study will need to come to Nationwide Children's Hospital in Columbus, Ohio, three times. At each of these three time points, cognitive outcome measures will be assessed: at baseline (visit 1), 6 months (visit 2), and at 12 months (visit 3). At baseline (visit 1) and 12 months (visit 3), an MRI and a lumbar puncture will be performed.


Sponsor: Nationwide Children's Hospital

Current Primary Outcome: Cognitive function [ Time Frame: up to 12 months ]

Assessed using the Leiter International Performance assessment, a non-verbal assessment of cognitive function.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Adaptive functioning [ Time Frame: Months 0, 6, and 12 ]
    Parental assessment of adaptive functioning using the Adaptive Behavioral Assessment System
  • Emotional/behavioral function [ Time Frame: Months 0, 6, and 12 ]
    Assessment of emotional/behavioral problems using the Child Behavioral Checklist
  • White and grey matter brain volumes [ Time Frame: Months 0 and 12 ]
    Assessment of brain volumes by MRI. MRI will be performed under sedation.


Original Secondary Outcome: Same as current

Information By: Nationwide Children's Hospital

Dates:
Date Received: November 26, 2013
Date Started: February 2014
Date Completion:
Last Updated: November 12, 2015
Last Verified: November 2015