NCT02950298

Pompe Telemedicine Developmental Study

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

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 22 (actual)
• Sponsor: Duke University · Academic / Other
• Sex: All
• Age: 6 Years – 18 Years
• Healthy volunteers: Not accepted

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 description

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.

Conditions

• Pompe Disease
• Glycogen Storage Disease II

Timeline

• Start date: 2015-12-01
• Primary completion: 2021-03-01
• Completion: 2021-03-03
• First posted: 2016-11-01
• Last updated: 2021-10-28

Locations

1 site across 1 country: United States