Cognitive and Neurological Pathologies in Pompe Disease (CNS)
Status
Conditions
Details and patient eligibility
About
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.
Enrollment
Sex
Ages
Volunteers
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
Trial design
45 participants in 1 patient group
Trial contacts and locations
Loading...
Central trial contact
Gretchen Nichting
Data sourced from clinicaltrials.gov
Clinical trials
Research sites
Resources
Legal