Gathered online, facio-scapulo-humeral myopathy (FSH) experts from around the world shared and updated on the latest medical-scientific advances, both in the field of research and clinical trials.
The various presentations provided an opportunity to discuss in particular:
- the development of a new FSH mouse model: it can express very low levels of DUX4 under doxycycline,
- the identification of DUX4 inhibitors, such as matrin 3, which naturally blocks the expression of DUX4 and whose administration to a FSH cell model improves their viability and their myogenic differentiation and ARO-DUX4, an interfering RNA which decreases the expression of DUX4 mRNAs, the injection of which improves the weight, muscle atrophy and muscle dysfunction of FSH model mice.
- the good safety of losmapimod, which is being evaluated in a phase II placebo-controlled trial called ReDUX4, which involves 80 participants treated for one year. In contrast, the primary endpoint of the trial, a significant reduction in DUX4 gene expression under losmapimod, was not met. Fulcrum Therapeutics, which is developing the product, still reports improvements in muscle function and the quality of life of patients, as well as in fatty infiltration.
Access the abstracts of the 28th of the FSHD Society (2021 IRC Abstract Book)
Fulcrum Therapeutics Announces Results from ReDUX4 Trial with Losmapimod in Facioscapulohumeral Muscular Dystrophy (FSHD) Demonstrating Slowed Disease Progression and Improved Function. Fulcrum Therapeutics Press release, June 24, 2021.
