Pompe Telemedicine Developmental Study

Sponsor

Duke University (Other)

Overall Status

Completed

CT.gov ID

NCT02950298

Collaborator

(none)

Enrollment

Location

Duration (Months)

0.3

Patients Per Site Per Month

Study Details

Study Description

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

Condition or Disease	Intervention/Treatment	Phase
Pompe Disease Glycogen Storage Disease II

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 Design

Study Type:

Observational

Actual Enrollment :

22 participants

Observational Model:

Other

Time Perspective:

Prospective

Official Title:

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

Study Start Date :

Dec 1, 2015

Actual Primary Completion Date :

Mar 1, 2021

Actual Study Completion Date :

Mar 3, 2021

Outcome Measures

Primary Outcome Measures

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 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.
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

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]

Eligibility Criteria

Criteria

Ages Eligible for Study:

6 Years to 18 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

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.