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20th December 2012
Dear friends of the TREAT-NMD Alliance!

At the 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 Diseases 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 committee, 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), and 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 TREAT-NMD Advisory Committee for Therapeutics (TACT) under Cristina Csimma and now 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, Samantha Cook, 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 grants 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 Buccella (Duchenne Parent Project Onlus) 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

TACT review update
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The TREAT-NMD Advisory Committee for Therapeutics (TACT) is pleased to announce that four applications were reviewed at the TACT meeting which took place 27-28 October 2012, Prague, Czech Republic, organised by TREAT-NMD and co-sponsored by Parent Project Muscular Dystrophy and Cure Duchenne.

- Dariusz C Gorecki MD, PhD. University of Portsmouth. P2X7 purinoceptor as a target for pharmacotherapy of Duchenne Muscular Dystrophy.
- Erica Reeves. PhD. ReveraGen BioPharma, Inc. VBP15 for the treatment of DMD.
- Joanne M. Donovan, MD, PhD. Catabasis Pharmaceuticals, Inc. CAT-1004, a novel anti-inflammatory agent for treatment of Duchenne Muscular Dystrophy.
- Patricio Sepulveda. Myostin Therapeutics Pty Ltd. Novel myostatin antagonist peptides to enhance muscle function.

The confidential reports were provided to the applicants within 6 weeks of the meeting and the non-confidential summaries will be available to view on the TREAT-NMD website from the 21st December 2012. Interested parties should contact the investigator directly for further information and/or to request a copy of the full TACT report.

The next TACT review meeting will be held in Baltimore, USA on 27-28 April 2013 and TACT will review up to 4 applications. Anyone wishing to submit a proposal for this meeting should contact the TACT secretariat via emma.heslop@ncl.ac.uk, as soon as possible, in order to discuss this further as the deadline for applications is 27th January 2013.

If you wish to find out more about TACT you can view a video of a presentation given by Dr Cristina Csimma and Dr Sharon Hesterlee at the Partnering for Cures - Faster Cures Conference in New York City, November 2012. View video here.

CARE-NMD International Conference on DMD, Budapest
Registration Reminder
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A reminder that registration for the CARE-NMD International Conference on DMD is currently open at www.care-nmd.eu/register. The conference will take place on 18-19 April 2013 at the Hilton Budapest WestEnd, Hungary.

The discounted registration rate of €150 per person (including two nights at the conference hotel) has proved incredibly popular. This is a limited offer available on a first come, first served basis, and we encourage you to take advantage of it while still available.

The conference will feature an exciting programme of international speakers, with sessions covering a range of topics around best-practice DMD care. A full provisional programme and further information about the event is available on the CARE-NMD website.

FSHD Disease Section: Now Available
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A new disease section for FSHD (Facioscapulohumeral dystrophy) has been launched on the TREAT-NMD website since our last newsletter.

FSHD is the third most common muscular dystrophy worldwide, with an estimated prevalence of about one in 20,000. Disease symptoms normally start to present in teenage years, and predominantly affect the face (facio), shoulder blades (scapular) and the upper arm (humeral) as well as the legs. There are currently no treatments to slow down, stop or reverse the symptoms of FSHD. However an internationally agreed dataset for FSHD patient registries was created in 2011 and there are a number of registries already up and running with many more in development.

This new disease section contains more information about the genetics of the disease along with links to the growing number of patient organisations and registries available to support people affected.

More information about the disease can now be found on our website, select the blue disease information button on the menu bar.

Networking grant on exon skipping for rare diseases approved
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The European Cooperation in the Field of Science and Technical research (COST) has approved the application “Networking towards clinical application of antisense-mediated exon skipping” coordinated by Annemieke Aartsma-Rus. COST provides funding for networking to solve scientific and/or societal challenges that can only be overcome through networking.

The funded COST application aims to accelerate and facilitate the development and clinical implementation of exon skipping in rare diseases, with a focus on Duchenne muscular dystrophy. The specific objectives are:

- Reach consensus on biochemical outcome measures (dystrophin quantification and serum biomarkers)
- Develop new regulatory models for the development of exon skipping compounds in small patient groups
- Foster synergistic work through meetings involving academic experts that focus on specific challenges in the development of exon skipping for Duchenne muscular dystrophy and other rare diseases
- To educate early stage researchers on how to present their work clearly and responsibly to patients

So far the following Academic partners are involved in this network: Annemieke Aartsma-Rus (LUMC), Luis Garcia and Aurelie Goyenvalle (Institute de Myologie), Alessandra Ferlini (University of Ferrara), Samir El Andaloussi and Edvard Smith (Karolinska Institutet), Francesco Muntoni (University College London), Nic Wells (Royal Veterinary College London), George Dickson (Royal Holloway College London) and Eric Hoffman (Children’s National Medical Center, Washington DC), as well as representatives from Duchenne patient organizations (Mirjam Franken (Duchenne Parent Project The Netherlands) and Francoise Rouault (AFM).

COST networks are flexible and allow participation of additional partners, provided they are working in a COST country. If you have an interest in one or more of the objectives or are working on exon skipping for rare diseases and would like to join this network, please inform Annemieke Aartsma-Rus.

Rare Disease Day 2013
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28th February 2013 marks the sixth international Rare Disease Day coordinated by EURORDIS and organised with rare disease national alliances in 24 European countries.

On and around this day hundreds of patient organisations from more than 60 countries worldwide are planning awareness-raising activities converging around the slogan "Rare Disorders without Borders"

Activities will take place across Europe, all the way to Russia, continuing to China and Japan, in the US and Canada, and as far as Australia and New Zealand! Why not get involved?

New exon skipping research report
available in early 2013
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Dr. Guenter Scheuerbrandt will have his next research report on exon skipping ready at the beginning of January. Those whose address is not yet on his English mailing list but would like to have this new report as soon as it is ready, should send their e-mail address to him: gscheuerbrandt@t-online.de.

Clinical research associate required
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The Muscle Group based at the Institute of Genetic Medicine, Newcastle University has a long tradition of excellence in research, diagnosis and management of neuromuscular genetic disease. They have secured funding from the EU Framework programme 7 and are seeking a clincial research associate to undertake cutting edge genetic research utilising next generation sequencing technology for diagnostics and personalised genetic treatments (anti-sense oligonucleotide exon skipping). The successful candidate will have the opportunity to gain valuable experience in modern genomic approaches to genetic disease and participate in both research and clinical trial activities. These activities will provide invaluable training and may be used to form the basis of a research-based qualification (MD or PhD).

The successful candidate will have a medical degree and will have broad/extensive clinical experience, including paediatrics and/or neurology.

Interested applicants should contact Professor Volker Straub or Dr Steve Laval for further details. The salary of the appointee will be made at an appropriate point on the Clinical Research Associate salary scale.

Closing date for applications is 15 January 2013

The post is available until 30 September 2015

Update on Canadian Neurological Registry
Best Practice Guidelines and Implementation Toolkit
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On 6th February 2013 in Toronto, Ontario, Canada the best practice guidelines and an implementation toolkit for researchers planning new neurological registries in Canada will be unveiled. The guidelines have been developed over the past 15 months through extensive literature review and expert consultation. The project was led by the University of Calgary and funded by the Public Health Agency of Canada’s National Population Health Study on Neurological Conditions in partnership with the Neurological Health Charities of Canada. All researchers planning or operating a neurological registry in Canada should attend. To learn more, and to sign up for the event, contact Janet Warner at 403-220-7459 or warnerj@ucalgary.ca.

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20th December 2012
TREAT-NMD newsletter - 20th December 2012
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