Biomarker for Krabbe disease - An international, multicenter, epidemiological protocol


Krabbe disease is a rare, hereditary degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerve’s protective myelin coating, and destruction of brain cells. Krabbe disease is one of a group of
genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe
deterioration of mental and motor skills. Myelin is a complex substance made up of at least 10 different
enzymes. Each of the leukodystrophies affects one (and only one) of these substances. 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 irritability, unexplained fever, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity,
deafness, and blindness.

Overall calculated European frequency is 1 case per 100,000, with a higher reported incidence in Sweden of 1.9 cases per 100,000. An unusually high incidence, 6 cases per 1000 live births, is reported in the Druze community in Israel.

New methods, such as mass spectrometry, provide a good chance of characterizing specific metabolic
alterations in the blood (plasma) of affected patents that will allow us to diagnose the disease earlier in the future, with higher sensitivity and specificity. Therefore, it is the goal of this study to develop new
biochemical markers from the plasma of affected patients, helping to benefit the patient with early diagnosis and thereby with earlier treatment.

Study population:

Patients with Krabbe Disease

For more information please find the whole BioKrabbe outline here.


Partner in this collaborative project is the Albrecht-Kossel-Institute at the Universitaetsmedizin Rostock.


Susanne Zielke
Clinical Research Associate

Phone: +49 (0) 381 494 4739
Mobile: +49 (0) 151 161 439 24
Fax:     +49 (0) 381 494 4798


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