Previous 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(1)”, from the public-private partnership consortium leaded by Dr. Artero and funded by La 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 more large 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.

From the main outputs of this research, the product MYODM has been developed. Results are presented herein:

 

SUMMARY OF RESULTS

1. The study of the effect of MYODM on the movement capacity, measured through the indirect muscles associated with flight, allows to triple the functionality of the flies model of DM1, recovering between 60-70% of the flying capacity of control healthy flies.

2. The study of the effect of MYODM on the muscular area allows a recovery of 40% of the muscular area the indirect muscles of the flight with respect to DM1flies, once it reaches almost 85% of the muscular area of ​​healthy flies. That is, MYODM reduces muscle atrophy in the DM1 model.

3. The study of the effect of MYODM on cardiac dysfunction in the dystrophic fly animal model confirms that the product is safe in vivo and that diet supplemention of DM1 individuals with MYODM significatively improves key parameters of dystrophic flies, such as the heart rate and the FS fraction.

4. MYODM allows a 96% increase in life expectancy and a 65% average survival of dystrophic flies over healthy flies.

5. The feeding of model DM1 flies with MYODM allows to reduce the Redox levels (ROS measurement) by approximately 30% compared to diseased flies fed exclusively with the standard nutritive medium.

6. Autophagy (catabolism of cellular components to obtain energy and eliminate toxic proteins and harmful organelles) is activated in DM1. The feeding of DM1 model flies with MYODM allows to reduce autophagy levels by more than 50%.