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 Turkey
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