Studying Brain and Nerve Changes in Children with Pompe Disease
Observes brain, nerve and learning changes over time in children and teens with Pompe disease.
Plain-language title generated from the registry record
Registry title: Cognitive and Neurological Pathologies in Pompe Disease
Key facts
- Where
- Durham, United StatesSee the site
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 0 and 18 years old?
Source: NCT04639336, who can take part
Where in United States
- Duke University Medical CenterDurham, United StatesTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Duke University
- Trial code
- NCT04639336
- Record updated
- 4 March 2026
- Original description
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.Read full original descriptionShow less
Cognitive and Neurological Pathologies in Pompe Disease
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.
Inclusion: Subject has a confirmed and documented diagnosis of infantile Pompe Disease (IPD) or Late onset Pompe Disease (LOPD).
Exclusion: Refusal to give informed consent.