Home › Glycogen Storage Disease Type II › NCT04639336

Cognitive and Neurological Pathologies in Pompe Disease

Who can join

Ages 0 to 18 · All sexes

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

About the study

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.

Sponsor: Duke University · Participants: 45 · Started: Aug 3, 2016

Contact the study team

• Gretchen Nichting · Phone: +1 919 660 0757

Official record on ClinicalTrials.gov — NCT04639336

Locations in the U.S.

Conditions

• Glycogen Storage Disease Type II

From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.