Project: Safety and efficacy of a possible epigenetic therapy for FSHD muscular dystrophy
| Acronym | EpiThe4FSHD (Reference Number: EJPRD20-191) |
| Project Topic | Facioscapulohumeral muscular dystrophy (FSHD) is the most prevalent muscle disease that afflicts both children and adults regardless of their gender. FSHD is caused by aberrant gain of expression of the double homeobox 4 (DUX4) gene causing toxic effects in muscle cells. Despite the consensus on the pivotal role of DUX4 and several clinical trials, there is currently no cure or an effective therapeutic approach for FSHD patients. In our studies, we identified a novel regulator of DUX4 expression. Targeting this factor allows to block DUX4 expression and rescues the pathogenic behavior of muscle cells from FSHD patients. The treatment is safe to healthy muscle cells. Based on our results, we will use cellular and animal models of the disease to investigate a novel pharmacological approach that could represent a promising therapeutic option for FSHD patients. |
| Network | EJP RD |
| Call | 2nd EJP RD Joint Transnational Call for Rare Diseases Research Project (JTC 2020) |
Project partner
| Number | Name | Role | Country |
|---|---|---|---|
| 1 | IRCCS Ospedale San Raffaele | Coordinator | Italy |
| 2 | Ontario Institute for Cancer Research | Partner | Canada |
| 3 | Ludwig-Maximilians-Universität München | Partner | Germany |
| 4 | Genetic Diagnosis Centre | Partner | Türkiye |
| 5 | S. Chiara Hospital | Partner | Italy |
| 6 | Unione Italiana Lotta alla Distrofia Muscolare | Partner | Italy |
| 7 | Triphase Accelerator | Observer | United States |
| 8 | University of Pisa | Observer | Italy |
| 9 | University of Pisa | Observer | Italy |