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30th November 2012
CARE-NMD International Conference on DMD, Budapest
Registration Open

Registration is now open for the CARE-NMD International Conference on DMD, which will take place on April 18th-19th 2013 at the Hilton Budapest WestEnd, Hungary.

The conference is organised around the theme of Caring for People Living with DMD. An exciting programme of international speakers will bring to bear a range of scientific, clinical, academic and patient & family perspectives across six focused sessions:

- Introduction to DMD Care
- Evaluating Care for DMD
- Quality of Life in DMD
- Current Research: Open Questions in the Care Standards
- Current Research: Future Therapies and Regulatory Perspectives
- Networks and the future of DMD Care

A full provisional programme is available on the CARE-NMD website.

A discounted registration rate of €150 per person including two nights at the conference hotel is available on a first come, first served basis. To register for the conference, please go to http://www.care-nmd.eu/register.

Responses invited to public consultation on the implementation
of European Reference Networks (ERN)
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The European Cross-Border Healthcare Directive (Directive 2011/24/EU) is a landmark piece of legislation officially adopted in March 2011. For many years, citizens in any given EU Member State (MS) have been entitled to receive healthcare in a country other than their affiliated MS – this is not a recent development. However, there were many uncertainties regarding the practical application of these rights – under what circumstances could patients seek cross-border care? Who would pay, and how? It was therefore deemed necessary to clarify the application of patients’ rights in cross-border healthcare and establish formal cooperative ties between the various health systems involved. The Directive is the first legally-binding measure of its kind, and all MS are required to transpose the directive into national law by October 2013.

The Directive is particularly important for those affected by neuromuscular disorders or indeed any rare diseases. Where expertise in the diagnosis and treatment of a particular NMD is lacking, it is essential that patients are able to access centres of expertise for their condition in a MS other than their own. To improve such access to high quality healthcare in specialised areas of medicine (which pose particular challenges to patients and healthcare workers at all levels), Article 12 of the Directive calls for the creation of overarching European Reference Networks (ERNs) – physical or virtual networks linking knowledge and expertise concentrated around nationally designated centres of expertise across the EU. The valuable networking experiences of the neuromuscular field should make it ideally placed to inform and influence the ways in which ERNs will be implemented, governed and evaluated. The Directorate General for Health and Consumers has now opened a Public Consultation on the implementation of ERNs – this will remain open until 24th January 2013, and invites the views and opinions of a range of stakeholders.

26th AFM Telethon 2012
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"Dare to Win" is the message for the 26th AFM-Telethon which will be broadcast 7-8 December 2012. Lasting for more than 30 hours across six different public television channels this year's Telethon will come from four ambassador cities across France.

Since 1987, this annual event, initiated by the French muscular dystrophy association AFM, has been an exceptional example of solidarity and generosity that has given hope and support to individuals with neuromuscular and other rare diseases not only in France but across the world. Collecting almost 100 million Euros per year, the Telethon supports numerous research programmes and clinical trials  - currently funding 36 trials in 31 rare diseases - and enables provision of information services and socially innovative support services.

Donate here or discover more about Telethon and their activities by clicking 'more'.

DMD exon skipping trial receives funding
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An international team of scientists led by Professor Francesco Muntoni of the UCL Institute of Child Health have been awarded an EU grant to develop and test a novel drug treatment for boys with Duchenne muscular dystrophy (DMD).

The clinical safety trial, which is not expected to start before autumn 2014, aims to recruit 12 boys who have a particular genetic defect which the drug will target. The first stage of the trial will focus on identifying the best drug formula to 'skip’ the area on the affected gene known as ‘exon 53’. The ‘exon skipping’ method involves making a very small piece of genetic material (‘molecular patch’), which once inside a muscle cell, will bind to its matching sequence of genetic code. This ‘patch’ is designed to bind a region surrounding the genetic error, in this case exon 53.

The total EU-funded grant, “SKIP-NMD” is €5.5 million, with €1.4 million allocated to UCL and Great Ormond Street Hospital. The collaboration includes clinicians and researchers from Newcastle University (UK), Universita’ Cattolica Del Sacro Cuore (Italy) and Institut de Myologie, Pierre et Marie Curie University (France). During the pre-clinical stage, Royal Holloway, University of London will work closely with the US firm Sarepta Therapeutics who will provide the drug, and cover half the drug production and pre-clinical and clinical trial costs. A number of other industrial partners will help to develop non-invasive tools to monitor disease progression and potential response to therapeutic intervention (SYSNAV, France and CRIS, Belgium).

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.

The post is available until 30 September 2015

EuroBioBank partners meeting report
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The tenth EuroBioBank (EBB) annual meeting took place in Milan, Italy on 12-13 November 2012, organised by Fondazione Telethon and hosted by Fondazione IRCCS Cà Granda Ospedale Maggiore di Milano.

The conference brought together 23 EBB delegates from 17 European Biobanks , discussing and approving Biobank specific topics such as quality control, ethical conducts and unitary management procedures as well as the connection/involvement of the EBB in existing multinational scientific cooperations like RD-Connect, TREAT-NMD, IRDiRC, etc.

As of January 2012, the EuroBioBank is under the administrative coordination of Telethon to forward the future development of the EBB in a proven and synergistic partnership. This event was the first joint meeting of  the EuroBioBank with the Telethon Network of Genetic Biobanks (TNGB). During the meeting Dr Marina Mora, Istituto Neurologico C. Besta, Milano was elected as the new EBB scientific coordinator.

Action Duchenne's 2012 Conference
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This year's annual Action Duchenne Conference was held in London on  9-10 November, and was the best-attended yet. Participants heard the latests news on DMD care and research, received updates about ongoing and planned clinical trials, and had opportunities to discuss the challenges of living with Duchenne.

During the gala dinner it was announced that Nick Catlin, the founder of Action Duchenne, would be stepping down. Paul Lenihan will take over as National Director and Kate Angus as Operations Manager for the charity. We would like to take this opportunity to thank Nick for his dedication and passion for the Duchenne field.

Report on CARE-NMD Czech & Polish Training Events
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Two CARE-NMD professional training events were held in November, in Poland and the Czech Republic, as part of the project's efforts to disseminate best-practice DMD care information.

On 9th November, a workshop was organised in Warsaw by the local CARE-NMD project partner, the Department of Neurology at the Medical University of Warsaw. It was granted an honorary patronage by the Rector of the University, and featured a scientific programme covering all aspects of best-practice DMD care. Three lectures were presented by international experts Thomas Sejersen (Sweden), Nathalie Goemans (Belgium), and Birgit F. Steffensen (Denmark), and there were nearly 90 participants. In the afternoon two parallel sessions were held: one for physicians and a hands-on workshop for physiotherapists, both sessions were CME accredited.

The following week, a workshop was held in Prague. Chaired by Assistant Professor Petr Vondracek (University of Brno, local CARE-NMD partners in the Czech Republic) and run in co-operation with the Institute of Biostatistics and Analysis, Masaryk University (IBA). The one-day event on 14th November provided a wide range of information about DMD/BMD care for both experts and the general public. Sessions covered different areas of multidisciplinary care, and all presentations were filmed and will soon be available to view on the CARE-NMD website. In order to further increase awareness of DMD throughout the Czech Republic the organisers also plan to publish abstracts from the day.

Both events were very successful, and the organisers would like to thank everybody who attended.

Upcoming meetings
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30th November 2012
TREAT-NMD newsletter - 30th November 2012
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