← Back to Clinical Trials
Recruiting NCT04639336

NCT04639336 Cognitive and Neurological Pathologies in Pompe Disease

◆ AI Clinical Summary
Plain-language summary for patients
Clinical Trial Summary
NCT ID NCT04639336
Status Recruiting
Phase
Sponsor Duke University
Condition Pompe Disease
Study Type OBSERVATIONAL
Enrollment 45 participants
Start Date 2016-08-03
Primary Completion 2028-03

Eligibility & Interventions

Sex All sexes
Min Age 0 Years
Max Age 18 Years
Study Type OBSERVATIONAL

Eligibility Fast-Check

Enter your details for a quick preliminary check. This does not replace medical advice.

What to Expect as a Participant

This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.

This trial targets 45 participants in total. It began in 2016-08-03 with a primary completion date of 2028-03.

⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.

Brief Summary

The purpose of this study is to better understand the long-term health effects of Pompe disease and to determine if there are any abnormal changes in the brain and peripheral nerves. Additionally, the investigators will study the relationship between the abnormal changes in brain, nervous system findings, and developmental outcomes. The investigators will collect clinical information from clinic visits as well as assessments such as neuroimaging (magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), and diffusion tensor imaging (DTI)), cognition, academic skills, speech and language function, physical therapy and quantitative muscle ultrasound. Subjects will be in this study for at least 3 years and up to 6 years.

Eligibility Criteria

Inclusion Criteria: * Subject has a confirmed and documented diagnosis of infantile Pompe Disease (IPD) or Late onset Pompe Disease (LOPD) Exclusion Criteria: * Refusal to give informed consent

Contact & Investigator

Central Contact

Gretchen Nichting

✉ gretchen.nichting@duke.edu

📞 +1 919 660 0757

Principal Investigator

Priya Kishnani, MD

PRINCIPAL INVESTIGATOR

Duke University

Frequently Asked Questions

Who can join the NCT04639336 clinical trial?

This trial is open to participants of all sexes, aged 0 Years or older, up to 18 Years, studying Pompe Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.

Is NCT04639336 currently recruiting?

Yes, NCT04639336 is actively recruiting participants. Contact the research team at gretchen.nichting@duke.edu for enrollment information.

Where is the NCT04639336 trial being conducted?

This trial is being conducted at Durham, United States.

Who is sponsoring the NCT04639336 clinical trial?

NCT04639336 is sponsored by Duke University. The principal investigator is Priya Kishnani, MD at Duke University. The trial plans to enroll 45 participants.

Related Trials

ClinicalMetric — Independent clinical trial intelligence platform. Not affiliated with NIH, ClinicalTrials.gov, the U.S. FDA, or any pharmaceutical company, hospital, or clinical research organization. Trial data is sourced from ClinicalTrials.gov for informational purposes only and does not constitute medical advice. Do not make any treatment, enrollment, or health decisions based solely on information found here — always consult a qualified healthcare professional. Full Disclaimer  ·  Last Reviewed: April 2026  ·  Data Methodology