Clinical Trial: Pompe Telemedicine Developmental Study

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

Official Title: Developmental Outcomes of School-aged Children With Infantile-onset Pompe Disease: A Telemedicine Approach to Assessment and Cognitive Training

Brief Summary:

The primary purpose of this study is to:

  • Document the developmental outcomes of individuals with Pompe disease treated with long-term enzyme-replacement therapy (ERT) through school-age (ages 6-18) using measures of cognitive functioning, academic skills, and speech and language abilities.
  • Investigate possible cognitive processing speed weaknesses using BrainBaseline neurocognitive assessment software.
  • Investigate the relationship between behavior and other developmental factors including speech and language ability and cognitive ability.
  • Explore if the use of selected iPad applications may help strengthen cognitive processing speed in children with Pompe disease

Detailed Summary: The study will last approximately 2-3 years. It includes 2-4 visits to Duke for developmental assessments. The baseline/year 1 visit may take place at Duke (may take 1-2 days) or remotely via iPad. The follow up 1/year 2 visit may take place at Duke (1-2 days) or remotely via an iPad, depending upon each child's particular situation.
Sponsor: Duke University

Current Primary Outcome:

  • Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology. [ Time Frame: 2 years ]
  • Document the developmental outcomes and cognitive function of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by PPVT-4. [ Time Frame: 2 years ]
    This outcome measure will be tested using measures testing cognitive function.
  • Document the developmental outcomes and language abilities of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by CELF-5. [ Time Frame: 2 years ]
    This outcome measure will be tested using measures testing language abilities.
  • Document the developmental outcomes and cognitive function of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by Woodcock-Johnson Test of Achievement. [ Time Frame: 2 years ]
  • Document the developmental outcomes and cognitive function of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by Leiter. [ Time Frame: 2 years ]


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Conners. [ Time Frame: 2 years ]
  • Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by BRIEF-P. [ Time Frame: 2 years ]
  • Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Child Behavior Checklist. [ Time Frame: 2 years ]


Original Secondary Outcome: Same as current

Information By: Duke University

Dates:
Date Received: June 22, 2016
Date Started: December 2015
Date Completion:
Last Updated: October 28, 2016
Last Verified: October 2016