Research Institution: ​​Monash University

Principle Investigator: ​Professor Christina Mitchell

Type: Australian

Project title: “​Drug­targeting of myoblast fusion as a treatment for FSHD”

Status: Completed


Project goal: to investigate potential therapeutics for FSHD

In previous studies funded by the FSHD Global Research Foundation, Professor Mitchell and her team reported the finding that FHL1, a positive regulator of muscle growth can reduce muscle wasting and improve the diseased muscle in FRG1 mice. FRG1 mice were engineered to have symptoms similar to human FSHD. The study identified potential new therapeutic targets for the treatment of FSHD. In recent findings, the Monash team have shown that some FSHD muscle cells have a defect in the way they grow and behave in vitro (in a test tube). These same defects can be observed in muscle cells from FRG1 mice. The group has just completed a study using an in vitro tested agent known as Tamoxifen that has potential to rectify the muscle cell defect as a therapeutic strategy against the muscle wasting that occurs in FSHD. Tamoxifen is routinely used to treat breast cancer and can be taken orally. Tamoxifen was delivered to FRG1 mice via a tamoxifen supplemented diet for a period of 12 weeks. During the study mice were assessed for weight gain and on completion muscle was collected for further analysis. Prof Mitchell and her team found that although FRG1 mice tolerated the treatment, analysis of muscle pathology revealed that tamoxifen did not improve the diseased muscle.