The Institute for Myelin and Glia Exploration's Clinical Database of Patients With Krabbe Disease, A World-Wide Registry

What this Trial Is About

Krabbe disease is a rare condition affecting about 1 in 250,000 births, with most affected children having an early-infantile form that is often fatal if untreated. This study aims to build a global clinical database to better understand the symptoms that signal disease onset across different types of Krabbe disease. It also seeks to explore whether GALC enzyme levels or certain genetic mutations can predict how the disease progresses, and which neurodiagnostic tests may indicate disease onset or severity. Participants will provide detailed information through a questionnaire about their diagnosis, symptoms, genetic and enzyme activity data, and results from brain MRI and other neurological tests. Imaging data and physician reports, when available, will also be collected. Follow-up phone calls with parents or caregivers will gather updates on health status, disease progression, neurological symptoms, and developmental milestones. The collected data will be anonymized and stored in specialized databases to improve understanding and diagnosis of Krabbe disease. Throughout the study, researchers will analyze prognostic indicators including genetic and molecular markers, enzyme levels, and neurodiagnostic test results. The primary outcome measure is overall survival tracked for up to five years. The study involves ongoing data collection and monitoring to enhance diagnosis accuracy and support future therapy development for Krabbe disease.

Krabbe Disease Global Patient Registry