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

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02950298

Enrollment

Registered

2016-11-01

Start date

2015-12-31

Completion date

2021-03-03

Last updated

2021-10-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Glycogen Storage Disease II, Pompe Disease

Keywords

Pompe, Glycogen Storage Disease II, Telemedicine, Duke University Medical Center

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.

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

6 Years to 18 Years

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.

Design outcomes

Primary

Measure	Time frame	Description
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 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	—
Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology.	2 years	—

Secondary

Measure	Time frame
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
Relationship between daily behaviors in school-aged children with Pompe disease and development, as assessed by Conners.	2 years

Countries

United States

Outcome results