CMT1A

CMT Type 1A – CMT1A is caused by the duplication of the Peripheral Myelin Protein 22 (PMP22) gene, which leads to the demyelination of the peripheral nerves. Our partnership with Genzyme, a Sanofi company, resulted in screening their entire compound collection (almost 2 million compounds) and has identified some candidate compound series for treating CMT1A, which are being tested in a variety of secondary assays and animal models. In addition, both laboratory and animal models of CMT1A have been made available to additional CMTA alliance partners for testing of therapeutic compounds, and we hope to be able to share some of these promising data in the very near future. These models include a human stem cell model of CMT1A, made in collaboration with the NYSCF, which in addition to therapeutics testing, is being made available to the research community. Dr. Michael Shy is leading efforts, together with the members of our Clinical Expert Board (CEB), to develop the best outcome measures for clinical trials of CMT1A therapeutics.