The three-year project “Safety and efficacy of a possible epigenetic therapy for FSHD muscular dystrophy”, named also with the acronym EpiThe4FSHD, started on September 2021.

The research focuses on a study of the mechanism that control DUX4 expression in order to inhibit it.
The Gene Expression and Muscular Dystrophy Unit, at San Raffaele Institute in Milan, project coordinator, directed by Dr Davide Gabellini, has identified a factor necessary for the DUX4 expression on FSHD patients. The availability of drugs targeting the identified factor support the possibility to develop a possible pharmacological treatment for FSHD.

EpiThe4FSHD is collaborative project among several international partners:

• A Canadian Research Institute that develops compounds able to block the factor of interest and that is involved in clinical testing in collaboration with a US pharmaceutical industry;
• A German Biomedical Centre that is going to evaluate the molecular effects of targeting the factor of interest;
• Two Clinical group based in Italy and in Turkey whose role is to obtain muscular biopsies from FSHD patients or healthy donors, in order to isolate muscular cells to test the drugs;
• A Patient Advocacy organization, to help the dialogue between researchers and patients, that will provide visibility to the project in order to attract the interest of the collective and reach new stakeholders

Project activities will be run by different working groups that are going to meet periodically to keep up-to-date with the evolution of the project.

The main goal of the project is to prove the safety and efficacy of the approach on pre-clinical models in preparation for a future clinical research on FSHD patients.