Desminopathy is a progressive muscle wasting condition caused by a change in the desmin gene. There are currently no treatments for it.
Developing a therapy that would reduce the amount of changed desmin in cells could delay problems with muscle function and slow down progression of the condition.
The researchers aim to develop the first gene therapy for desminopathy and test it on muscle cells in the laboratory to see if the treatment can potentially work. They will also be looking to check it’s not harmful to cells.
If this project proves to be successful, the researchers will look to test the developed gene therapy in animal models and tissues built in the laboratory – this is the pre-clinical stage of treatment development before they can reach human clinical trials. This would be a huge step for people living with desminopathy – a condition for which treatments are yet to be found.
We will be jointly funding this project with the French Muscular Dystrophy Association (AFM-Téléthon).
