Focused Research Using 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.
We are currently working on pre-clinical animal studies with Dr. Cat Lutz at The Jackson Laboratory and Dr. Steven Gray, formerly at the University of North Carolina at Chapel Hill, now at the University of Texas-Southwestern. This work has been funded by CureCMT4J and through a Precision Genetics Grant from the National Institutes of Health to The Jackson Laboratory.

Early data is very promising, showing that gene therapy halts progression of disease in young mice.

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. On-going trials using gene therapy in other rare diseases, such as spinal muscular atrophy (SMA) and San Filippo Syndrome have shown very promising results as well.