Treatments and drugs

By Mayo Clinic Staff

There's no specific, proven treatment for Krabbe disease, nor is there a cure. Krabbe disease treatment is designed primarily to ease symptoms and may include:

  • Anticonvulsant medications to manage seizures
  • Drugs to ease muscle spasticity and irritability, such as benzodiazepines
  • Drugs that may reduce the incidence of reflux

Treating symptoms in some older children with less-severe forms of the disease may include:

  • Physical therapy to minimize deterioration of muscle tone.
  • Occupational therapy so your child may achieve as much independence as possible — for example, by learning such tasks as dressing, eating and brushing teeth on their own.
  • Some research indicates possible benefits associated with the use of bone marrow transplantation or cord blood transfusion as treatments for Krabbe disease.

Bone marrow transplantation

Adult bone marrow — the sponge-like material present in bones — has been used to replace a child's own bone marrow in Krabbe disease. This procedure is called hematopoietic stem cell transplantation. It appears to provide benefits primarily to older children who have less-severe forms of the disease or to infants diagnosed at birth.

For other children — particularly infants who have already developed symptoms — this treatment hasn't been successful. It doesn't appear to halt or slow progression of the disease in babies, nor has it been effective in treating fetuses diagnosed with the disease before birth.

More research — including longer follow-up with more subjects — is needed to better assess the possible benefits of this treatment.

Cord blood transfusion

A transfusion of blood stem cells, obtained from the umbilical cord of unrelated donors, has reduced neurological symptoms in some infants with Krabbe disease.

In small studies, doctors have transfused healthy donor cells with normal enzyme (GALC) activity into babies with Krabbe disease who have not yet developed symptoms. This treatment has stimulated normal development of myelin in these babies. Babies treated before symptoms appeared seemed to maintain normal hearing and vision; however, there was subsequent deterioration in language expression and in motor skills, such as walking or picking up objects.

In the future, gene therapy could play a role in the treatment of Krabbe disease, by delivering a functional gene via a virus to the cells or tissue, replacing the abnormal gene that is responsible for the disorder.

Jun. 11, 2011