RESEARCH PATHWAYS TO TREATMENTS FOR CMT4J

GENE THERAPY

CureCMT4J is working towards a treatment or cure using gene therapy.

CMT4J is caused by a single faulty gene, the FIG4 gene, which makes the disease an ideal candidate for gene therapy.

PRE CLINICAL WORK COMPLETE AND SUCCESSFUL! Our animal studies with Dr. Cat Lutz and Dr. Rob Burgess, at The Jackson Laboratory, Dr. Guy Lenk at University of Michigan, and Dr. Steven Gray, formerly at the University of North Carolina at Chapel Hill, now at the University of Texas-Southwestern have shown incredible success using gene therapy to treat mouse models of CMT4J. Pre clinical work was extremely promising, showing that gene therapy halts progression and causes some reversal of symptoms of disease in young mice. This work has been funded by CureCMT4J and through a Precision Genetics Grant from the National Institutes of Health to The Jackson Laboratory. These results should be published in the near future and will serve as the basis for a first-in-human CMT4J gene therapy trial.

WHAT IS GENE THERAPY?

Gene therapy is a way of treating genetic-based diseases by delivering healthy copies of the faulty gene. Scientists create a “viral vector”, which packages a healthy copy of the gene within a benign virus that will deliver the gene to appropriate cells throughout the body. Billions of copies of the viral vector are made, then injected into the person, where they are then incorporated into cells. Researchers believe that gene therapy for CMT4J has the potential to not only halt disease progression, but also reverse some of the symptoms and damage that has already occurred. Gene therapy is currently being tested in over 600 clinical trials.

The FDA approved gene therapy for a form of blindness in 2017 and in Spinal muscular atrophy (SMA) in 2019. On-going trials using gene therapy in other rare diseases have shown very promising results as well.

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DRUG RE-PURPOSING PATHWAY

Rare diseases are quickly discovering the fast-track approach of identifying and using already FDA-approved drugs/medications. CureCMT4J is working with researchers, using several different pathways to identify existing drugs that may help to increase the missing FIG4 protein or help to down-regulate the processes that occur as a result of its absence.

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SMALL MOLECULE PATHWAY

Small Molecule drugs act on biological processes and activities that take place on a cellular level. This can help to prevent or repair damage to different cells that occurs from the disease process of CMT4J. Most drugs approved by the FDA in 2018 were considered small molecules. CureCMT4J is working with researchers on a developing a small molecule treatment.

Chemical tube with reaction formula in light