CMT1B

CMT1B – This CMT subtype is caused by mutations in Myelin Protein Zero (MPZ). Board members Dr. Michael Shy and Dr. Lawrence Wrabetz are collaborating with Dr. James Inglese at NIH to explore the unfolded protein response pathway, which plays a causative role in CMT1B. Studies of this pathway have yielded some candidate compounds for treatment, which have been shown to be effective in one model of CMT1B. We are developing studies to see if this approach will treat the three major clinical presentations of CMT1B. Another approach in development is to inhibit the immune response to the nerve damage that occurs in CMT1B.