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Krabbe Translational Research Network (KTRN)

KTRN Group Photo

The second meeting of the Krabbe Translational Research Network was held March 12–15, 2012 in Pittsburgh, Pennsylvania.

KTRN members discussed the latest findings of the newborn screening program in New York State, where 1.5 million infants have been screened for Krabbe disease since 2006. Researchers shared what is currently known about galactocerebrosidase (GALC) mutations that cause the disease and how these mutations affect the nervous system. Future projects include an online database of human GALC mutations and polymorphisms.

Current and future improvements to hematopoietic stem cell therapy (HSCT), were discussed, including combining HSCT with gene therapy. This treatment has shown promise in the twitcher mouse model of Krabbe disease. In preparation for clinical trials of this combination therapy, adeno-associated viral vectors have been engineered for better GALC expression and spread throughout the central nervous system. Other cellular therapies are also being investigated.

The possible use of psychosine as a biomarker of disease was discussed. Studies are underway to determine whether the level of psychosine in newborn dried blood spots correlate with the results of neurodiagnostic exams and other tests used to diagnose Krabbe disease. In addition, mechanisms underlying the effects of psychosine on neurons were discussed.

Other topics included:

  • Crystallization of the mouse GALC enzyme, which is 83% similar to human GALC, which provides insight into clinically relevant mutations.
  • Advanced imaging tools that reveal in more detail the changes that occur in the nervous system of children with Krabbe disease. These tools will help identify children who are in need of immediate treatment.
  • New methods to identify and test drugs that might useful in treating Krabbe disease.

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