TREAT-NMD 2012 review

At end of the year, Annemieke and I would like to review the developments and events of 2012 and share our plans for the upcoming year with you.

2012 has been a fantastic year providing us with numerous scientific high-lights in neuromuscular and translational research, for instance new gene discoveries in rare forms of muscle and nerve disease through next-generation sequencing, identification of pathways and therapeutic targets in previously enigmatic conditions such as FSH, and an unprecedented number of clinical trials in DMD and SMA. Congratulations to all of you who contributed to these exciting new findings. Furthermore, the neuromuscular field has been very successful in securing further funding for research through public and private funders, and has been at the forefront of Rare Disease in general. Much of this was facilitated through global collaborations and infrastructures that were built up during the EU-funded network TREAT-NMD.

2012 also marked the first year of the TREAT-NMD Alliance with a new governance structure, the elected 12-member executive board, a new charter, and a highly successful new membership scheme which attracted 184 individual and 66 organization members so far. EuroBioBank moved hands and is now led by Fondazione Telethon (administrative coordination) and Marina Mora (scientific coordination), will work closely with the Telethon Biobanking Network and continue to provide high-quality biomaterial for NMD research. The patient registries expanded into new territories, both geographically, and also in new disease areas (LGMD2I, GNE myopathy, Myotonic Dystrophy), with the oversight committee chaired by Jan Verschuuren and Hugh Dawkins. The Therapeutics Advisory Committee (TACT) under Cristina Csimma and Nick Wells continues to go from strength to strength reviewing compounds at different stages of clinical research brought forward by both by academic and private sector applicants. The secretariat in Newcastle with Steve Lynn, Emma Heslop, Kate Bushby and Volker Straub remains the main point of contact for the Alliance and regularly reaches out via the newsletter to 3500 participants and the website which attracts 250,000 page hits annually. Looking forward to 2013 we feel confident that the TREAT-NMD Alliance will be sustainable.

Further collaborative plans for 2013 and beyond were proposed: regular workshops on antisense oligonucleotide therapies for DMD facilitated by a EU grant awarded to Annemieke; developments in MRI imaging as an outcome measure and tool for therapy monitoring with several grant submitted; increased collaboration and data sharing for next generation sequencing as suggested by Kathy North and Daniel McArthur;  innovative natural history studies and clinical trials for LGMD2B, LGMD2I and GNE myopathy; among others. The Alliance is committed to work with patients and patient organizations as equal partners in all aspects of research, and Filippo Bucella has kindly agreed to oversee a patient forum that will be available through the TREAT-NMD website in 2013.

We look forward to more exciting news and developments and hope that you will continue to share your best ideas and support the Alliance.

Happy Holidays and all the best for 2013; Annemieke and Hanns

12 Apr 2017