TREAT-NMD 2014 review

We have the privilege to address you all personally for the Christmas edition of the TREAT-NMD newsletter, after the executive committee agreed to extend the period of the chair and vice-chair by one more year. We would like to take this opportunity to thank them for this vote of confidence and also for their hard work for and on behalf of TREAT-NMD. Special thanks also go to the TREAT-NMD secretariat members who keep the network running on a daily basis. It is an honour and a privilege to lead such a dedicated and enthusiastic group of people.

A lot has happened in 2014 for TREAT-NMD: The website, and indeed the newsletter, is still as popular as ever with 56,000 visitors generating 256,000 page hits this year alone and 3,500 receiving the newsletter each month.  We launched a new ‘three year action plan’ to further the work TREAT-NMD was coordinating already, but also to embark on new areas, such as coordinating efforts of next generation sequencing to identify new disease genes for neuromuscular diseases in collaboration with Neuromics and RD-Connect projects.

Over 100 papers acknowledging TREAT-NMD were published last year! Furthermore, papers were published on TREAT-NMD coordinated efforts such as a meeting to discuss the EMA guidance for DMD trials that took place last year in London, papers on SMA and DMD registries and a collaborative paper with GSK on the economic burden of illness of DMD (which made use of the DMD registries).

Also, a new patient registry was launched for GNE myopathy. The CTSR is expanding to neurodegenerative diseases and currently holds information on more than 280 centers in over 40 countries and added the PhenoSearch facility this year. TACT reviews are still in high demand, with 5 reviews done in the last year, including the first review on X-linked myotubular myopathy and the first review on gene therapy.

Milestones were reached in the neuromuscular field as well, with Translarna being the first drug ever to receive marketing authorisation for DMD and positive results being reported for other DMD and SMA trials. Parent Project Muscular Dystrophy coordinated the drafting of a guidance document for clinical drug development for DMD (the first patient organisation ever to do this), which was submitted to FDA in June and which FDA put out for feedback in October.

For 2015 we are working hard to prepare a workshop on exon skipping for DMD hosted by EMA, organizing another TREAT-NMD conference and setting up a system for post marketing surveillance, which should also open a new chapter of work on outcome measures. We are also anticipating 2 more papers arising from the DMD registries to be published next year and are hopeful for additional drug approvals in the neuromuscular field.

Please bear in mind that all members of TREAT-NMD are part of these successes. TREAT-NMD exists because of its members who dedicate time and expertise on a voluntary basis and who are willing to collaborate and network. We would like to send a heartfelt thank you to you all and to wish you all the best for 2015.

Annemieke and Eric

12 Apr 2017