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