There’s a lot of excitement around gene-targeted therapies for their ability to treat the underlying root cause of various diseases and result in life altering outcomes.  The neuromuscular disease field has recently seen the FDA approval of gene-targeted therapies for spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD).   Such genetic approaches are currently being tested in a  number of other diseases, including CMT.

Encouraging results towards developing gene therapy for CMT1X were recently reported from Dr. Kleopa’s group  at the Cypress Institute of Neurology and Genetics.  In this study, a viral delivery method was used to express GJB1in the peripheral nervous study of mice engineered to be a model of CMT1X.  Importantly, the normal gene for GKB1 was delivered to the mice already exhibiting signs of the disease to determine if this therapy could slow down the progression of the disease or even reverse it.    The treated mice  demonstrated improved muscle and nerve function as well as  decreased inflammation providing important proof of concept that it may be possible to treat patient with CMT1X at different ages. Further work is needed to optimize this gene therapy approach before it is ready for testing in humans.

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