By: George Simpson
In 2020, the CMT Research Foundation had funded renowned nerve disease expert, Dr. Rudolf Martini of University Hospital Würzburg (Germany), to investigate whether inhibiting inflammation in the peripheral nerves could reduce symptoms and improve outcomes for patients with CMT1B. This project was sunset in early 2022 because initial results indicated that the model mice were not suitable for the project and no other model mice existed for this subtype and mutation. In the intervening time, the researchers studied later time points in the animals and discovered that they are in fact suitable for the project, they just need to be studied at 18 months of age instead of 12 months of age. This led to two findings: 1) the animals do indeed develop an axonal phenotype, which becomes apparent at 18 months of age, and 2) this is true even in hemizygotes. Furthermore, similar work by others has now been published and the results are in line with the findings from the Martini lab. This greatly increases the confidence that the animal model is a faithful model of T124M CMT1B and that the experiments will provide valid data. As a result, the CMTRF has provide additional funding for Dr. Martini to continue his work.
Read about this project here.