Treatment

For infants who have already developed symptoms of Krabbe disease, there is currently no treatment that can change the course of the disease. Treatment, therefore, focuses on managing symptoms and providing supportive care. Interventions may include the following:

• Anticonvulsant medications to manage seizures
• Drugs to ease muscle spasticity and irritability
• Physical therapy to minimize deterioration of muscle tone
• Nutritional support, such as the use of a tube to deliver fluids and nutrients directly into the stomach (gastric tube)

Interventions for older children or adults with less severe forms of the disease may include:

• Physical therapy to minimize deterioration of muscle tone
• Occupational therapy to achieve as much independence as possible with daily activities

Stem cell transplantation

Hematopoietic stem cells are specialized cells that can develop into all of the different types of blood cells in the body. These stem cells are also the source of microglia, specialized debris-eating cells that take up residence in the nervous system. In Krabbe disease, microglia are transformed into toxic globoid cells.

In stem cell transplantation, donor stem cells are delivered into the recipient's bloodstream through a tube called a central venous catheter. The donor stem cells help the body produce healthy microglia that can populate the nervous system and deliver functioning GALC enzymes. This treatment may help restore some degree of normal myelin production and maintenance.

This therapy may improve outcomes in infants if treatment begins before the onset of symptoms — that is, when a diagnosis results from a newborn screening test. Current evidence suggests that stem cell transplantation is most effective when started before an infant reaches 2 weeks of age.

Studies have found that pre-symptomatic children treated with stem cell transplantation may have slower disease progression and improved quality — and length — of life, compared with children who don't receive stem cell transplantation before symptoms develop. However, infants who have stem cell transplants before symptoms appear still develop significant difficulties with speech, walking and other motor skills during childhood.

Older children and adults with mild symptoms of Krabbe disease also may benefit from this treatment. As with infants, the severity of symptoms at the time of stem cell transplantation affects treatment outcomes.