Professor Robert Burgess and his team at The Jackson Laboratory in Bar Harbor, Maine, is developing both drug treatments and gene therapies for CMT2D with excellent results in mouse models of the disease.

CMT2D is caused by mutations in a gene called glycyl tRNA synthetase (GARS). Five other genes closely related to GARS cause other forms of CMT, suggesting that they cause the disease in a similar way. When studying mice, the Burgess Lab found that mutations in GARS, or the related gene YARS1 (which causes dominant intermediate CMT type C, CMTDIC), turn on a stress response in nerve cells. The lab found the stress response makes CMT symptoms worse. They used an experimental drug to switch off this stress response and the CMT symptoms improved. The drug also has benefits when treatment is started after CMT symptoms have developed, and maintaining the benefits requires continued treatment. If treatment is stopped, the symptoms return. This knowledge is very important when we think about using this drug for patients already living with CMT2D. The lab’s results show that targeting the stress response is a good strategy for these particular types of CMT.

The Burgess lab is talking with drug companies about further developing this experimental drug into a treatment that can be safely used in humans. In addition, the lab is also piloting a novel gene therapy approach for CMT2D with very promising results in the mouse models. Having “multiple shots on goal” with both gene therapies and drug strategies will improve the chances of having viable treatment options for CMT2D patients.

Katherine Forsey, PhD, the CMTA’s Chief Research Officer said “The Burgess lab is making great strides in understanding how CMT affects the cells in our bodies and identifying possible targets for treatments. With the support of the CMTA community, we will continue to fund research across multiple CMT types. Working together, we can accelerate research, advance our knowledge and develop new treatments for CMT”.

If you would like to support the CMTA’s research efforts and enable expanded partnerships with world leading research laboratories, please consider making a donation in support of the CMTA’s Strategy to Accelerate Research.

Published: June 20, 2023