Global Registry for Krabbe Disease Patients to Improve Understanding and Prediction of Disease Course

What this Trial Is About

Researchers are building a global clinical database for individuals diagnosed with Krabbe disease to better understand the symptoms that signal disease onset in its various forms. The study aims to find out if GALC enzyme activity levels or specific genetic mutations can predict how the disease progresses. It also seeks to determine which neurodiagnostic tests can forecast disease onset or severity, addressing gaps in knowledge especially for later-onset forms of this condition. This observational study collects detailed clinical information from participants, including symptom history, diagnosis age, genetic and enzyme data, and results from brain MRI, spinal fluid, auditory, visual, and nerve conduction tests. Imaging data and medical reports may also be gathered. Follow-up phone calls are conducted to monitor health status, disease progression, neurological symptoms, and developmental milestones. Collected data is anonymized and entered into a specialized database to improve diagnosis and treatment decisions. Participants contribute information through questionnaires and ongoing updates via phone with caregivers or parents. The research team analyzes multiple potential indicators, such as genetics and neurodiagnostic results, to better understand disease patterns. The main outcome measured is overall survival over up to five years. This study continues until September 2026, aiming to enhance knowledge that could lead to improved therapies and more accurate prognosis for those affected by Krabbe disease.

Krabbe Disease Global Patient Registry