Cognitive and Neurological Pathologies in Pompe Disease

Recruiting now

Conditions studied: Pompe Disease

In brief

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.

Key facts

Study ID

NCT04639336

Run by

Duke University

People needed

45

Starts

2016-08-03

Expected to finish

2029-03-01

Last updated by the study team

2026-03-04

Who can join

Age: any, up to 18. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Subject has a confirmed and documented diagnosis of infantile Pompe Disease (IPD) or Late onset Pompe Disease (LOPD)

You may not qualify if…

• Refusal to give informed consent

Where it is running

• Duke University Medical Center — Durham, North Carolina, United States (enrolling)

Full record on ClinicalTrials.gov

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