Krabbe Disease

Krabbe Disease is a serious hereditary LSD that causes leukodystrophy affecting both the central and peripheral nervous systems due to the accumulation of toxic fat in nerve cells.

Krabbe Disease is an autosomal recessive disorder caused by a mutation in the GALC gene.

In case of persistent damage to the brain and peripheral nervous system, most patients with Krabbe disease suffer from characteristic progressive neurological disorders before 6 months of age such as developmental regression, stiffness, and convulsions and die before the age of 2.

  • Rare Genetic Disease

  • LSD

    mutation in GALC gene

  • 1:100,000

    live birth prevalence

  • Neurodegenerative

    death before age 2

  • No Treatment


Early Infantile Form

The early infantile form developing before 6 months of age accounts for 90% of Krabbe Disease. Symptoms begin with excessive cry with no apparent reason and lead to rapid regression in nervous system. Thereafter, the affected babies begin to lose spontaneous movement and end up dying before the age of 2.

Late Infantile Form

Krabbe Disease may develop late after 18 months of age, or even in adolescence and adulthood. Regardless of the timing of onset, the affected one’s life expectancy decreases with symptoms such as gait disorders, stiffness, and vision loss.


The incidence of Krabbe Disease is estimated to be 1 in 100,000 live births


As there is no effective treatment for Krabbe Disease, patients are relying on symptomatic treatment to relieve symptoms.

The technology and know-how of the Hunterase can be applied to develop a treatment for Krabbe Disease as the disease is a kind of LSD like Hunter Syndrome.

Novel Pharma is developing a treatment for Krabbe Disease that directly administers the deficient enzyme in the central nervous system by applying ICV administration established through clinical trials of Hunterase ICV.

Our Research in Rare Neurodegenerative Diseases

Novel Pharma is expanding its rare disease therapeutics pipeline based on the experience in the entire cycle of developing new drugs for rare diseases, secured through the success of Hunterase.