About Krabbe Disease

Krabbe disease, also known as globoid cell leukodystrophy, is a rare, inherited disease of the nervous system. Historically, Krabbe disease has been classified into various subtypes based on the onset of signs and symptoms, and include: early infantile (prior to 6 months of age), late infantile (between 6 months and 3 years of age), juvenile (between age 3 and 16 years) and adult (16 years and older). Krabbe disease has an estimated incidence of 1 in 100,000.

Krabbe disease is caused by a mutation in the GALC gene that leads to deficiency of the galactocerebrosidase (GALC) enzyme, which plays a critical role in the breakdown of toxic fats, including psychosine and galactosylceramide in the nervous system.

Early infantile Krabbe disease is the most severe and rapidly progressive form, culminating in death by age two or three years. Signs and symptoms include feeding difficulties, excessive crying, loss of previously attained milestones, seizures, muscle spasms, blindness, deafness and loss of voluntary movement. Individuals with late infantile disease experience seizures, visual and cognitive impairment, failure to thrive, incoordination, unsteadiness, ataxia and spasticity. Juvenile disease is characterized by loss of vision and psychomotor regression. Patients with adult Krabbe disease slowly develop progressive spastic paraparesis or gait abnormalities.

There is no cure for Krabbe disease, and treatment is mainly supportive. Hematopoietic stem cell transplantation for individuals with early infantile Krabbe disease is available to those in very early neonatal life, and has been shown to significantly extended survival. Nonetheless, transplant recipients develop severe peripheral neuropathy, and disease progression ultimately leads to early mortality.

Neurogene’s Krabbe disease program is currently in the Investigational New Drug (IND) enabling stage.