Disease Project Team Updates

The CMTA’s research is done in teams consisting of academic labs and clinical centers sponsored by the CMTA (STAR members), working together and with alliance partners in consortium team efforts. STAR Teams are sponsored by the CMTA via a rapid process of expert review, following invitation of proposals for targeted translational efforts. All sponsorship aims to directly aid the advancement of CMT therapies.


STAR Research

Translational Advances




  • Cell based reporter assay established for screening of potential therapeutic libraries
  • One potential therapeutic target class identified
  • Multiple therapy development alliances established
  • Animal models licensed and in use for evaluation of candidate therapies
  • Expansion of assay capability to include high throughput assays, Nerve-Schwann cell co-cultures, and human patient-derived stem cells

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  • No discussions or assets
  • Targeting pathways proposed for therapeutic intervention; cell-based assays being developed
  • Authentic animal model representing human mutation and pathology under development
  • Stem cell lines derived from human patient materials being completed

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Type 1X
  • Planning to test stem cells in animal models
  • Role of inflammation in disease pathology established
  • Proof of principle in animal model showing inflammatory mediator can regulate disease progression

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  • Struggle to establish animal models
  • No guiding hypothesis for disease intervention
  • Rodent models established for two human mutations; an age-dependent disease pathology is observed
  • Cell line model for phenotypic screening of candidate therapeutics being developed that aims to test role of MfN1 in correcting disease pathology
  • Stem cell lines derived from human patient materials being completed

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  • No animal model available
  • No guiding hypothesis of disease intervention
  • Authentic rodent model of a human mutation licensed and being characterized
  • Key scientific experts convened to propose a translational approach
  • Stem cell lines derived from human patient materials being completed

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Type 4
  • No discussions
  • Launched research for 4C with Dr. Kleopas Kleopa at The Cyprus Institute of Neurology and Genetics to explore gene therapy options to treat CMT4C

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STAR Drug Discovery Process
The CMTA launched an alliance effort with the New York Stem Cell Foundation (NYSCF) in 2014 to create iPSC lines from a number of different CMT disease states. Human stem cell lines will be systematically created by the NYSCF from human patient skin cell lines banked at the University of Iowa. The work is expected to be completed in late summer of 2015 on the first four CMT diseases. NYSCF will bank the cell lines and make them available for research use. Their implementation in drug candidate evaluation is expected to be swiftly incorporated into the CMTA’s Disease Project Team efforts, where alliance partners will also have access to their use for STAR consortium work.