Pompe Telemedicine Developmental Study

Study Overview
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Brief Summary
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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
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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.

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

Conditions
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Pompe Disease, Glycogen Storage Disease II

Participation Criteria
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Eligibility Criteria
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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:

Ages Eligible for Study
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Minimum Age: 6 Years
Maximum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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. | This outcome measure will be tested using measures testing cognitive function. | 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. | This outcome measure will be tested using measures testing language abilities. | 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 cognitive function of individuals with Pompe disease treated with long-term ERT through school-age (ages 6-18), as assessed by Leiter. |  | 2 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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 | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Telemedicine, Pompe, Glycogen Storage Disease II, Duke University Medical Center