New study tracks babies with pompe gene to learn when to start treatment

This study follows 20 babies and young children who were found through newborn screening to have a gene change linked to late-onset Pompe disease, but who do not have heart problems. Researchers will track their muscle strength, movement, and other health signs for up to 4.5 years to understand when symptoms start and when preventive treatment like enzyme replacement therapy might be needed. The goal is to create a better plan for managing these children and to support families coping with the diagnosis.