NCT lookup

Pull any trial record directly from ClinicalTrials.gov.

Cognitive and Neurological Pathologies in Pompe Disease

RecruitingN/A

Sponsor: Duke University

Conditions: Pompe Disease

Countries: United States

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.

Eligibility overview

Sex: ALL

Age: 0 Years to 18 Years

Healthy volunteers: No

Study type: OBSERVATIONAL

Eligibility criteria

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

Locations (1)

Durham, North Carolina, United States