Study of Brain and Nervous System Changes in Children with Pompe Disease and Their Developmental Effects

What this Trial Is About

Researchers are investigating the long-term health effects of Pompe disease, focusing on any abnormal changes in the brain and peripheral nerves. The study aims to understand how these changes relate to the nervous system and developmental outcomes in children with Pompe disease, including those with infantile and late-onset forms. This observational study is sponsored by Duke University and involves children up to 18 years old. Participants will undergo various assessments such as neuroimaging techniques including MRI, magnetic resonance spectroscopy MRS, and diffusion tensor imaging DTI. The study also evaluates cognition, academic skills, speech and language function, physical therapy outcomes, and muscle health using quantitative muscle ultrasound. These evaluations will help to characterize the neurological and muscular effects of Pompe disease over time. Children will be involved in the study for at least 3 years and up to 6 years. During this time, clinical information is collected from regular clinic visits and multiple performance and parent-reported measures. Researchers will monitor developmental outcomes, motor speech function, and muscle pathology, aiming to link these findings with imaging results. The primary outcome is to assess central nervous system pathology in treated Pompe disease patients using neuroimaging over the study period.

Cognitive and Neurological Pathologies in Pompe Disease