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Cognitive and Neurological Pathologies in Pompe Disease

NCT04639336 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 45

Last updated 2026-03-04

No results posted yet for this study

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.

Conditions

  • Pompe Disease

Sponsors & Collaborators

Principal Investigators

  • Priya Kishnani, MD · Duke University

Eligibility

Min Age
0 Years
Max Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2016-08-03
Primary Completion
2028-03-31
Completion
2029-03-31

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04639336 on ClinicalTrials.gov