Krabbe Disease and Stem Cells

Krabbe disease, also known as globoid cell leukodystrophy or galactosylceramide lipidosis, is a rare and often fatal metabolic disorder. A metabolic disorder occurs when the body is unable to process the foods we eat and extract certain nutrients. In the case of suffers of Krabbe disease the body is missing an important enzyme which breaks down certain types of fat-based compounds called galactocerebrosidase. Without this enzyme the cells in the body are unable to work properly which causes the build-up of compounds within them. The build-up causes damage to the myelin sheath, which covers nerve cells and acts like the insulating cover of an electric wire. When the myelin sheath becomes damaged, the nerves are unable to work properly, meaning signals sent by nerves may not be received by other nerves or they may even be sent the wrong place.^[1]

Unfortunately once a patient presents with symptoms of Infantile Krabbe Disease there is no cure and after sever degeneration, the illness often becomes fatal before 2 years of age.^[2] Thankfully, the condition is incredibly rare, affecting 1 in 100,000-200,000 births worldwide.^[3]

Krabbe Disease Facts

• Affects 1 in 100,000-200,000 births worldwide^[3]
• 6 cases per 1,000 people have been reported in a few Israeli communities^[4]
• Infantile Krabbe Disease is more prevalent in Sweden than other countries^[5]
• Infantile Krabbe Disease accounts for 85-90% of all cases worldwide^[5]
• In order for parents to have a child with Krabbe disease both must be carriers of the faulty gene^[5]
• When both parents are carriers of the faulty gene their children have a: 25% chance of being healthy and unaffected, 50% chance of being healthy and a carrier, 25% chance of being affected and a carrier ^[5]

Krabbe Disease and Stem Cells

Cord blood stem cells now offer hope to suffers of Krabbe disease. A small clinical trial found that when transplanted with allogeneic cord, children with pre-symptomatic infantile Krabbe disease developed with little neurological impairment. Additionally, results showed that when compared to those who received adult bone marrow, disease progression stabilised more quickly in patients who received cord blood.^[2]

At the time of writing there are 14 clinical trials investigating the application of stem cells in the treatment of Krabbe disease.^[6] One phase 1 study which is currently recruiting participants is exploring the safety and effectiveness of stem cells derived from human placenta in conjunction with stem cells from umbilical cord blood.^[7]

References

1. http://bethematch.org/for-patients-and-families/learning-about-your-disease/krabbe-disease/
2. http://www.ninds.nih.gov/disorders/krabbe/krabbe.htm
3. http://patient.info/doctor/Krabbe’s-Disease.htm
4. http://ghr.nlm.nih.gov/condition/krabbe-disease
5. http://www.socialstyrelsen.se/rarediseases/krabbedisease
6. https://clinicaltrials.gov/ct2/results?term=krabbe+disease+stem+cell&Search=Search
7. https://clinicaltrials.gov/ct2/show/NCT01586455?term=krabbe+disease+cord+blood&rank=1

The information contained in this article is for information purposes only and is not intended to replace the advice of a medical expert. If you have any concerns about your health we urge you to discuss them with your doctor.