The CMT Research Foundation is collaborating with renowned nerve disease expert Dr. Rudolf Martini of University Hospital Würzburg to investigate whether inhibiting inflammation in the peripheral nerves could reduce symptoms and improve outcomes for patients with CMT1B.

CMT1B is not only associated with the loss of myelin, but also with the eventual destruction of axons. In recent years, research has implicated inflammation as a culprit in this axon dysfunction.  This study will test whether inhibiting macrophage activation will prevent axon loss in an animal model of CMT1B. Macrophages are a type of white blood cells that appear to attack the myelin and axons in the peripheral nerves in some types of CMT1. While this process is not yet fully understood, the macrophages appear to be activated through a protein called colony stimulating factor 1, which is sensed by a receptor on macrophages, known as CSF1 receptor (CSF1R). Previous studies indicate that blocking, or inhibiting, CSF1R activity reduces axon damage in animal models of other CMT forms, such as CMTX. Now, research is needed to test whether macrophage inactivation through CSF1R inhibition will show similarly positive results in an animal model of CMT1B. If successful, this research will provide important proof of concept that preventing inflammation by blocking macrophage activation pathways is a potential treatment for people living with CMT1B.