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Krabbe Translational Research Network - 2014

The fourth meeting of the Krabbe Translational Research Network was held March 12–14, 2014 in Fort Lauderdale, Florida.

Topics included clinical challenges such as the variability of disease progression in later-onset Krabbe disease, the inability to effectively treat the peripheral nervous system, and the need for biomarkers for diagnosis, disease progression, and response to treatment. Researchers also presented new insights into the effects of specific galactocerebrosidase (GALC) mutations and polymorphisms on protein trafficking and processing, and the complex neuropathogenic mechanisms underlying pathogenesis of Krabbe disease

Results of preclinical studies in mice show that combining hematopoietic stem cell transplantation with gene therapy prolongs life, improves myelination, preserves motor function, and decreases neuroinflammation. The next stage in preclinical research will be to validate these findings in a large animal model. Advantages and disadvantages of using dog versus monkey models of Krabbe disease were compared.

The group discussed the Investigational New Drug application process and the National Institutes of Health initiatives for translational research. Breakout sessions focused on identifying the main challenges in preclinical studies and clinical trial design.

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