CompletedNot Applicable

Pompe Telemedicine Developmental Study

United States22 participantsStarted 2015-12

Plain-language 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

Who can participate

Age range

6 Years – 18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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:

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology.

Timeframe: 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.

Timeframe: 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.

Timeframe: 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.

Timeframe: 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.

Timeframe: 2 years

Trial details

NCT IDNCT02950298

SponsorDuke University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2021-03

View on ClinicalTrials.gov More Pompe Disease trials

Plain-language summary

Who can participate

Age range

6 Years – 18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Relationship between daily behaviors in school-aged children with Pompe disease and observed speech patterns, as assessed by speech pathology.

Timeframe: 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.

Timeframe: 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.

Timeframe: 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.

Timeframe: 2 years