Preliminary evidences that certain natural products, such as caffeine, increased MBNL1 in vitro on myoblasts from DM1 patients, arise from the project titled “Development of novel treatments for Myotonic Dystrophy: in vivo Drug Discovery”, from the public-private partnership consortium led by Dr. Artero and funded by Fundació La Marató de TV3 in the 2009 call devoted to Rare Diseases.
Those preliminary results were published as the patent applications “Caffeine for the treatment of Myotonic Dystrophy type 1 and type 2” and “Compounds for the treatment of Myotonic Dystrophy type 1 and type 2”, licensed to Myogem Health Company in 2015.
Due to the fact that caffeine belongs to a larger family known as xanthines, the extension of the preliminary research was then focused to in depth explore the behavior of these compounds on DM1 models. Moreover, combinations of xanthines in general, and combinations of caffeine with at least another xanthine in particular, were expected to exhibit some synergistic effects on in vitro and/or in vivo DM1 models.
The achieved results and the main output of this research, which is the product marketed as Myo-DM, are presented herein.