Myotonic Dystrophy Foundation

Report by Benedikt Schoser, Munich.  Posted with permission from TREAT-NMD.  

The International Myotonic Dystrophy Consortium (IDMC) hosts conferences every two years focusing on the latest developments in myotonic dystrophy research. Since the last meeting (IDMC-6) in Milan in September 2007, several pivotal discoveries have been made, and expectations were therefore high when more than 250 scientists and 200 patients from 40 countries convened in Würzburg, Germany from September 9-12, 2009 for IDMC-7. The meeting also marked the 100th anniversary of the description of myotonic dystrophy as a distinct clinical entity by Hans Steinert at a hospital in Leipzig, Germany. Over four days, 75 oral presentations and 96 poster presentations covered basic research, clinical aspects, current therapy, translational research, rehabilitation and psychosocial issues of myotonic dystrophy. Open dialogue with patients, family members and patient organizations in both English and German was a highlight of the program.

Recently published studies in mouse models of myotonic dystrophy were appreciated as major steps towards the development of future therapies. Experiments in a transgenic mouse model of DM1 carried out by Dr. Thornton’s group in Rochester showed that sequestration of the MBNL1 protein may be reversible by morpholino antisense oligonucleotides (Wheeler TM et al; Science. 2009;325:336-9). Another mouse model developed by Dr. Cooper’s group in Houston recapitulates muscle wasting as seen in myotonic dystrophy and links increased steady-state levels of CUGBP1 to PKC-mediated hyperphosphorylation (Orengo JP et al; Proc Natl Acad Sci USA 2008;105:2646-51. Kuyumcu-Martinez NM et al. Mol Cell. 2007;28:68-78).

To translate these exciting findings from animal studies into therapies for patients with myotonic dystrophy, well-designed clinical trials need to be conducted over the coming years. TREAT-NMD will partner with the myotonic dystrophy community to build appropriate infrastructures for such trials. Agreement was reached and presented to establish an international TREAT-NMD patient registry for myotonic dystrophy, based on the coordinated collaboration of existing and new national patient registries.

The 2011 IDMC-8 meeting will be held in the USA (place and date to be announced shortly). The chairs of IDMC-7, Drs. Krahe, Grimm and Schoser, would like to thank all participants, patient organizations and sponsors for a stimulating and successful meeting.

View original article on TREAT-NMD website.