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You are here: Home > Research > Krabbe Translational Research Network (KTRN)

Krabbe Translational Research Network (KTRN)

KTRN Group Photo

The 6th meeting of the Krabbe Translational Research Network was held February 3‐5, 2016 on Captiva Island, Florida. KTRN members updated the group on their ongoing research, and invited guests brought into these discussions new insights into potential disease mechanisms.

Considerable progress is being made using mutational analysis to predict symptom onset and disease severity in Krabbe disease. A new GALC enzyme activity assay also shows promise to predict phenotype, and incorporation of the blood biomarker psychosine as a second-tier analysis may further improve the accuracy of newborn screening results. These advances are crucial to help parents and physicians make informed treatment decisions for infants identified through newborn screening.

To address the urgent need for biomarkers of disease progression, several MRI-based approaches are being developed. Diffusion tensor imaging (DTI) is a sensitive tool to quantify white matter abnormalities in Krabbe disease. For families unable to travel to a center that conducts DTI studies, a simple but reliable imaging biomarker based on midbrain morphology may allow a child's primary care physician to send conventional MRI scans to the NDRD for interpretation.

Subcommittee chairs of Krabbe Connect‐the family-centered advocacy group established at last year's KTRN meeting‐shared their progress and challenges. Projects include the Krabbe disease biorepository, which has begun collecting and analyzing tissues and is developing protocols to make these tissue specimens available to other researchers.

Preliminary results from a clinical trial evaluating transplant outcomes after reduced-intensity conditioning were reported. This less toxic regimen appears to improve survival and quality of life in children who undergo umbilical cord blood transplantation. Several researchers updated the group on their studies testing gene therapy in combination with hematopoietic stem cell transplantation in animal models of Krabbe disease. In anticipation of a gene therapy clinical trial, the group also discussed challenges in translational studies, potential funding mechanisms, and FDA approval standards.

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