Pompe Telemedicine Developmental Study

Completed

• Conditions: Glycogen Storage Disease II; Pompe Disease

• Registration Number: NCT02950298
• Lead Sponsor: Duke University

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 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.

Study Timeline

• Study Start: 2015-12
• Study First Submitted: 2016-06-22
• Study First Submitted QC: 2016-10-28
• Study First Posted: 2016-11-01
• Primary Completion: 2021-03
• Study Completion: 2021-03-03
• Status Verified: 2021-10
• Last Update Submitted: 2021-10-27
• Last Update Posted: 2021-10-28

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 22

Inclusion Criteria

• Age range 6-18 years
• Diagnosis of classic Pompe disease by enzyme or molecular methods
• Patient, parent, or legal guardian is willing and able to give written informed consent
• English speaking child and care giver.

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology.	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.	2 years	This outcome measure will be tested using measures testing cognitive function.
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.	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 Woodcock-Johnson Test of Achievement.	2 years
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.	2 years	This outcome measure will be tested using measures testing language abilities.

Secondary Outcome Measures

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

Trial Locations

Locations (1)

Duke University Medical Center; 🇺🇸 Durham, North Carolina, United States