Cognitive and Neurological Pathologies in Pompe Disease
Purpose
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.
Condition
- Pompe Disease
Eligibility
- Eligible Ages
- Between 0 Years and 18 Years
- Eligible Sex
- All
- Accepts Healthy Volunteers
- No
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
Study Design
- Phase
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Patients with Pompe disease |
Recruiting Locations
Duke University Medical Center
Durham, North Carolina 27710
Durham, North Carolina 27710
More Details
- NCT ID
- NCT04639336
- Status
- Recruiting
- Sponsor
- Duke University