Hematopoietic stem cell transplantation--using stem cells from umbilical cord blood or bone marrow--has been shown to benefit some individuals when given early in the course of the disease. Scientists plan to test hematopoietic stem cell transplantation plus gene therapy to see if it dramatically increases life expectancy in an animal model of the disease. NINDS-funded scientists are testing a combined treatment approach in an animal model of disease that uses a harmless virus to increase protein production, along with blood stem cell transplantation and small-molecule-based drugs, to reduce neuroinflammation, cell death, and nerve cell degeneration seen in Krabbe disease.
Information from the National Library of Medicine’s MedlinePlus
Krabbe disease is a rare, inherited metabolic disorder in which harmful amounts of lipids (fatty materials such as oils and waxes) build up in various cells and tissues in the body and destroy brain cells. Krabbe disease, also called globoid cell leukodystrophy, is characterized by globoid cells (cells that have more than one nucleus) that break down the nerve’s protective myelin coating. Krabbe disease is caused by a deficiency of galactocerebrosidase, an essential enzyme for myelin metabolism. The disease most often affects infants, with onset before age 6 months, but can occur in adolescence or adulthood. Symptoms include:
- severe deterioration of mental and motor skills,
- muscle weakness,
- hypertonia (inability of a muscle to stretch),
- myoclonic seizures (sudden, shock-like contractions of the limbs),
- spasticity (involuntary and awkward movement),
- unexplained fever,
- difficulty with swallowing,
No specific treatment for Krabbe disease has been developed. Generally, treatment for the disorder is symptomatic and supportive. Medicines may be prescribed to help treat pain, and physical therapy may help maintain or increase muscle tone and circulation. Results of a very small clinical trial of children with infantile Krabbe disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Bone marrow transplantation may help some people.
Krabbe disease in infants is generally fatal before age 2. Individuals with a later onset form of the disease generally have a milder course of the disease and live significantly longer.