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26th April 2013
CARE-NMD International Conference - meeting report

The CARE-NMD International Conference took place in Budapest on 18th-19th April 2013 at the Hilton Budapest WestEnd.

140 delegates attended the event, organised around the theme of “caring for people living with DMD”. This broad theme permitted the discussion of a wide range of issues. Aspects of care such as steroid use, cardiac treatments, and transition were discussed alongside other important considerations including psychology and learning difficulties, the effect of newborn screening programmes, and efforts to train the next generation of neuromuscular professionals around the world.

The perspectives of patients and families were especially valued, with powerful contributions from an adult living with DMD and the father of a young boy with DMD. In addition, the important role of patient organisations in both care and research was an issue discussed by several speakers.

The conference also provided the first opportunity to report on some of the results of the CARE-NMD project on DMD care and quality of life in Europe. It was also particularly interesting to hear how the global effort to improve care for those living with DMD is progressing, with international perspectives provided via updates on patient and family surveys in Japan, the US, and Australia.

Feedback on the conference has been very positive, particularly from patients and clinicians in Eastern Europe. In order to benefit those who were unable to attend, presentations and videos of the sessions will be made available on the CARE-NMD website where permission has been received. The organisers would like to thank all of the chairs, speakers and attendees for making the CARE-NMD International Conference such a success.

Kick-off meeting “Networking towards clinical application
of exon skipping” COST Action
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On 3rd April the kick off meeting of the COST Action “Networking towards clinical application of antisense-mediated exon skipping” took place in Brussels, Belgium. COST provides funding for scientific or societal challenges that can only be overcome by networking.

This COST Action will address the challenges facing the clinical development of antisense-mediated exon skipping for Duchenne muscular dystrophy as a paradigm for development of exon skipping for Rare Diseases. It also offers scientists within participating countries funding for scientific exchange to a laboratory in another participating country.

The objectives of this COST Action 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

There are currently 15 members involved in this Action from 9 different countries (see http://www.cost.eu/domains_actions/bmbs/Actions/BM1207 for more information).

During the kick off meeting Annemieke Aartsma-Rus (Leiden University Medical Center, the Netherlands) and Dominic Wells (Royal Veterinary College London, UK) were installed as Chair and Vice-Chair of this Action. Also leaders for the working groups were chosen: Alessandra Ferlini (University of Ferrara, Italy) and Eric Hoffman (Childrens National Medical Center, Washington DC, USA) for objective 1, Annemieke Aartsma-Rus and George Dickson (Royal Holloway College London, UK) for objective 2, Francoise Rouault (Association Francaise contres les Myopathies, France) for objective 3 and Mirjam Franken (Duchenne Parent Project, the Netherlands) and Annemieke Aartsma-Rus for objective 4. Aurelie Goyenvalle (University of Versailles Saint Quentin en Yvelines, France) and Edvard Smith (Karolinska Institute, Sweden) will lead the scientific exchange programme.

The first joint workshop of this Action will be in September (tentatively in Rome) and will focus on delivery issues.

Note that participation to this COST Action is open to everyone residing in a COST country (see link for a list of COST countries) willing and able to contribute towards the objectives. Please contact Annemieke Aartsma-Rus for more information or check the website.

Concerns over stem cell therapy for SMA type 1 children
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The TREAT-NMD Project Ethics Council (PEC) has recently been made aware of the debate regarding the use of stem cells in the treatment of SMA type 1. The members of the PEC have asked that a statement from the president of SMA Europe be published on the TREAT-NMD website. The PEC's stance on the use of stem cells, which was initially published in January 2010, can also be found here.

First issue of the Neuromics project newsletter is available
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Neuromics is an ambitious and exciting research project which hopes to revolutionise diagnostics and develop treatments for 10 rare neurodegenerative and neuromuscular conditions. Funded by the EU for 5 years under an FP7 grant, Neuromics brings together leading research organisations from across Europe, overseas experts and highly innovative SMEs. The coordinator, Professor Olaf Riess (Tübingen) is supported by co-coordinators Professor Brunhilde Wirth (Cologne) and Professor Gert-Jan van Ommen (Leiden).

The consortium began work in October 2012, using the latest and most sophisticated -omics technologies and met together in January 2013 to discuss these first steps.

The project communication team, based in Newcastle, has now published the first newsletter which it is hoped will be of interest to a wide stakeholder audience, including patient communities. This first issue gives more detail about the background of the project and plans for the next steps. It can be downloaded here. If you wish to sign up and receive the next issue which is planned for September 2013 you can do so here.

The related project RD-Connect will develop an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research. To sign up to receive RD-Connect newsletters, click here.

Myotubular and Centronuclear Myopathy
patient registry launched
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The Myotubular and Centronuclear Myopathy Patient Registry, an international disease specific registry has been launched for the myotubular and centronuclear myopathies. It will collect genetic and medical information on all child and adult patients, living or deceased, and will also collect data on carrier females.

Currently there are no clinical trials available for myotubular myopathy (MTM) or centronuclear myopathy (CNM). However, research to find a treatment or cure for many muscle conditions including the myotubular and centronuclear myopathies is underway, with some encouraging results so far for x-linked myotubular myopathy. As such, arrangements for clinical trials to treat patients with x-linked myotubular myopathy are now in the pipeline.

Research projects for other forms of the condition, known as centronuclear myopathy, are still in progress. The early signs are hopeful, and suggest that clinical trials could be a tangible distance away.

The existence of a global patient registry means that researchers will be able to locate a suitable group of patients for specific clinical trials, and communicate about the existence of possible new treatments.

Registrations are welcome from:

- All patients, with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy
- Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms
- From families wishing to submit information about a relative who is now deceased, but who had a confirmed diagnosis
- Any patient who wishes to receive information only

The Myotubular and Centronuclear Myopathy Patient Registry has been developed with the support of TREAT-NMD, and a number of leading neuromuscular researchers.  As a result, only vital questions are included to find the correct patient cohorts for clinical trials, and the questionnaire will only take a maximum of 20 minutes to complete.

OPTIMISTIC myotonic dystrophy project launches website
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OPTIMISTIC is a EU funded collaborative trial with the aim of improving quality of life for people living with myotonic dystrophy through the development of clinical guidelines for cognitive behavioural therapy and exercise. The trial involving the Netherlands, Germany, France and the United Kingdom launched its website this week.

The site is a source of information for anyone interested in finding out more about the trial and how to get involved. In addition, it is a useful resource for the myotonic dystrophy community providing relevant news and information. The project will produce an annual newsletter to keep people informed of its progress, visit the OPTIMISTIC website to sign up for the newsletter or to find out more about the project.

Dutch Parent Project call for proposals - deadline approaches
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The Dutch Duchenne Parent Project NL (DPP NL) stimulates research in the search for a cure or treatment for Duchenne Muscular Dystrophy.

DPP NL sponsors promising research and fellowships, faster exchange of data and international collaboration. Researchers from all countries can apply for funding for their research projects with DPP NL.

Please note the deadline for applications is 1st May 2013.

Conditions for funding...

- Selection by international scientific advisory board
- Innovative research for finding a cure
- Avoidance of diarchy in research
- Multi-track policy: the widest possible range of research should be covered as it is not possible to say which research will lead to the ultimate solution
- Results should be generally available and measurable
- Selected projects will be monitored closely during their progress and researchers are required to submit progress reports
- Based on the results the scientific advisory board advises the Duchenne Parent Project annually about the continuation of sponsorship on the ongoing projects
- Application Form

Application form: download the form.

Update in Neuromuscular Disorders 2013
Last chance to register!
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Registration for the 2013 Update in Neuromuscular Disorders course will close on 4th May. This established paediatric and adult course aimed at specialists with an interest in neuromuscular disease is now in its sixth year.

The course runs from 7th-10th May at the National Hospital for Neurology and Neurosurgery in London. For further infomation about this course and the different topics included please visit the CNMD website, or download a copy of the programme. Secure your place now by registering here.

5th International CMT Consortium Meeting
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The registration and abstract deadline for the 5th International CMT Consortium Meeting in Antwerp, Belgium is 15th May.

The meeting starts on 25th June in the evening with a plenary session from Prof. Dr Garth Nicholson and a evening welcome dinner. Two full days follow with the programme including plenary lectures, platform and poster presentations covering clinical, diagnostic and basic research of peripheralneuropathies.

For further details please visit the meeting page on the TREAT-NMD website.

Save the date for IORMC 2013
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The third Indian Ocean Rim Muscle Colloquium (IORMC) will be held in Singapore from 12th -13th December 2013. The brain-child of Miranda Grounds of the University of Western Australia, this meeting brings together leading muscle researchers from India, Singapore and Australia with the aim of developing collaborations in the Indian Ocean region.

Previous meetings were extremely successful and catalysed multiple interactions and research collaborations between researchers from across the region. The excellent travel links to Singapore are hoped to help with extending participation further to other 'rim' countries including South Africa and Thailand. The Colloquium is open to PhD students and post-docs as well as established investigators and provides a great opportunity for those at the early stages of their research careers to present their work to a specialist audience. Please visit the IORMC website for further details

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26th April 2013
TREAT-NMD newsletter - 26th April 2013
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