About Krabbe Disease
Krabbe disease is a rapidly progressive and often fatal lysosomal storage disorder caused by mutations in the GALC gene encoding galactocerebrosidase. Deficiency of this enzyme leads to accumulation of psychosine, a toxic lipid that destroys the myelin sheath protecting nerve cells. The early infantile form is most common and most severe, presenting before 6 months of age with irritability, feeding difficulties, and rapid neurological decline.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Krabbe Disease trials.
Hematopoietic stem cell transplantation (HSCT) eligibility is age and symptom-severity dependent — pre-symptomatic newborns have the best outcomes
Newborn screening status is often required documentation for early infantile trial enrollment
GALC enzyme activity below a threshold percentage of normal is a standard inclusion criterion
Gene therapy trials typically exclude patients who have already received HSCT
Patient Resources
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