Krabbe disease is an inherited lysosomal disorder in the brain and nervous system that destroys the protective coating (myelin) of nerve cells. Krabbe disease affects about 1 in 100,000 people in the United States, and in most cases, the signs and symptoms of the disease begin gradually and progressively worsen.
There are several forms of Krabbe Disease. The two most common forms are early infantile onset and later onset. In most early onset cases, signs and symptoms of Krabbe disease do not become apparent until the baby is between two to six months of age. Up until then, a baby with Krabbe may appear to develop normally.
Early onset of Krabbe leads to neurological deterioration. Additional signs of early onset in infants are:
- Lower weight or lower rate of weight gain than that of infants similar in age,
a condition known as “failure to thrive”
- Loss of infantile milestones
- Underdevelopment or no development of motor skills
- Deterioration of mental capabilities
- Muscle stiffness initially, then babies lose muscle tone and become floppy
- Feeding difficulty – babies often require feeding tubes for nutrition
- Hearing loss or sensitivity to loud noises
- Vision loss
- Death generally around the age of 2
When it develops in older children and adults, the later onset type of Krabbe disease can vary greatly.
These symptoms have a slower progression, and include vision problems, hearing loss, and difficulty conducting basic movements.
Currently, there’s no cure for Krabbe disease. However, stem cell transplants have shown some success in infants who are treated before the onset of symptoms and in some older children and adults. That’s why much more research work needs to be done for more effective treatments.
Studies using the well-characterized animal models to investigate other treatment options including gene therapy, enzyme replacement therapy, neural stem cell transplantation, substrate reduction therapy, and chemical chaperone therapy are now being conducted. However, at this time HSCT (bone marrow transplantation) is the most effective method of therapy in the mouse models of Krabbe disease. None of these other methods is ready for human trials yet.
Partners for Krabbe Research works with many different researchers to aid in multiple areas of Krabbe Disease research advancement. A vitally important project that we are now working on is to expand the brain repository for Krabbe Disease, working together with key researchers at the University of Pennsylvania in Pittsburgh. This newly developed, leading-edge, one of a kind facility in the US is already making new discoveries that are of the utmost importance, as additional treatment options are in the development pipeline.
The Mission of P4KR is to increase awareness and support research to improve the lives of those born with Krabbe Disease.
References: Mayo Clinic; NCBI Resource Library; Center for Infectious Disease Research
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