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28th June 2013
TREAT-NMD Alliance meeting - registration is now open

We are delighted to announce that registration for the upcoming TREAT-NMD Alliance meeting is now open. The meeting will be held in Newcastle, UK from 30 October - 1 November 2013.

This meeting is a fantastic opportunity for patients, academics, clinicians, patient registry curators and industry representatives, indeed all TREAT-NMD stakeholders, to get together to network and exchange ideas and learn about new areas of research and collaboration.

The draft programme is available here.

Information about registration is available here.

New TREAT-NMD Vice-Chair – Eric Hoffman
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We are pleased to announce that Eric Hoffman has been appointed Vice Chair of the TREAT-NMD Alliance Executive Committee following a vote by the committee this month. Eric will formally take on his new role at the Executive Committee meeting in October 2013, at which the current Vice Chair, Annemieke Aartsma-Rus, will take over from Hanns Lochmüller as Chair.

Eric is the director of the Research Center for Genetic Medicine, and James Clark Professor of Pediatrics at Children’s National Medical Center in Washington, DC. The centre has integrated state-of-the-art basic genetics research (genome, transcriptome, and proteome), with an international clinical trial network, and ethics research. He has a diverse portfolio of research, and his center hosts national research cores for rehabilitation medicine, muscular dystrophy, developmental disorders, and clinical and translational research. Eric has over 400 publications. Increasingly his laboratory is focusing on novel drug development programs, including delta 9,11 steroids, and systemic anti-sense (exon-skipping). He serves as Scientific Director of the Cooperative International Neuromuscular Research Group, a clinical trial organization (www.cinrgresearch.org) and is also board-certified by the American Board of Medical Genetics in Clinical Molecular Genetics.

Please join us in congratulating Eric on his new role in the committee. We look forward to the valuable contribution Eric will bring to TREAT-NMD in the coming years.

To view the rest of the Executive Committees' details please click 'more’.

TREAT-NMD workshop - “Ways to Measure Clinical
Effectiveness in the Investigation of Medicinal Products
for the Treatment of DMD/BMD”
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On Friday 21st June, TREAT-NMD organised a workshop at The Wellcome Trust head office in London to discuss issues such as natural history, outcome measures, efficacy measurements, animal models and clinical study design as part of the coordinated response to the current public consultation by the EMA on the draft guidelines for clinical investigation of medicinal products in DMD/BMD.

The workshop attracted almost 60 participants representing patients, academics, and industry. Seven patient organisations and 12 pharmaceutical companies were present on the day. The workshop was also attended by experts involved with the production of the draft EMA guidelines.

The workshop agenda and publicly available presentations can be found here on the TREAT-NMD website.

TREAT-NMD will now finalise its response to the public consultation, which has a deadline of 31st August 2013, and will also publish a full workshop report.

We would like to acknowledge the support of AFM, COST Action BM1207 (chaired by Annemieke Aartsma-Rus), Muscular Dystrophy Campaign, Parent Project Muscular Dystrophy and the Dutch Duchenne Parent Project who helped to make this event a huge success.

Further information about the public consultation can be found on the EMA web site here.

TACT advice: summary reports from April meeting
now available online
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The TREAT-NMD Advisory Committee for Therapeutics (TACT) is pleased to announce that two applications were reviewed at the TACT meeting which took place 27th – 28th April, Baltimore, USA, organised by TREAT-NMD and co-sponsored by Parent Project Muscular Dystrophy and Cure Duchenne. The non-confidential summaries are now available from the TACT section of the TREAT-NMD website.

The next TACT review meeting will be held in Newcastle Upon Tyne, UK on 2nd-3rd November 2013 and TACT will review up to 4 applications. Anyone wishing to submit a proposal for this meeting should contact the Louise Johnston from the TACT secretariat, as soon as possible.

The deadline for pre-applications is 16th July 2013.

DMD care guidelines for families now available in Vietnamese
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We are delighted to announce that the family care guidelines for DMD now include a Vietnamese version. This latest translation brings the numbers of different languages available on the TREAT-NMD website to twenty nine. The printed booklet was disseminated free of charge to all families who attended the inaugural DMD Club meeting at the National Hospital of Pediatrics in Hanoi on 9 May 2013. This Club meeting was a pivotal moment for the MD community in Vietnam as until that time there had been no family support activities in the country and no educational resources available for families.

The family guide is based on the consensus document The Diagnosis and management of Duchenne muscular dystrophy which was published in the Lancet Neurology in 2010 and is written in a way that is accessible to people without a medical background.

We would like to acknowledge all the hard work that has been done by the volunteer translators which result in these guides being downloaded approximately 1,500 times from the TREAT-NMD website each year.

Save the date for the TREAT-NMD workshop -
Outcome measures in clinical trials in myopathies
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The International Congress of Neuromuscular Diseases - ICNMD - is held every four years in different locations around the world. It is the meeting of Research Group on Neuromuscular Diseases-World Federation of Neurology (RGNMD-WFN) which is now in its 50th year. It is firmly established by the global neuromuscular community as a unique opportunity to share scientific advances by those involved in the fields of improving care, understanding disease pathogenesis, and developing innovative treatments in muscle, neuromuscular junction, peripheral neuropathies and motor neuron diseases.

The next congress is scheduled for 5-10 July 2014 in Nice, France and is combination of plenary sessions, seminars, teaching courses and workshops.

As part of the meeting, TREAT-NMD is organising a workshop entitled 'Outcome measures in clinical trials in myopathies' which will be held on Thursday 10th July 2014 in the afternoon.

Registration for the whole meeting will begin in September 2103 and early registration is highly recommended.

Further details about the congress can be found on the dedicated website. More detailed workshop information will be published in future TREAT-NMD newsletters and on our website in due course.

Job opportunities: two clinical posts to support trials available
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Applications are invited for 2 clinical posts to support clinical trials, natural history and biomarker studies in patients with genetic muscle diseases. The posts are available for up to 3 years.

The successful candidates will have a medical degree and experience in medical history taking and patient assessment. The posts will provide an opportunity to gain experience in genetics, paediatric neurology, neurology and clinical research along with laboratory work.

The purpose of the posts will be to support natural history and biomarker studies and investigational drug trials in paediatric patients with neuromuscular diseases, as well as to support the clinical initiatives of the Neuromuscular Team. The anticipated activities are translational and in accordance with the aims of the MRC Neuromuscular Centre. The applicants will benefit from strong collaborations between the two sites of the MRC Centre, Newcastle and London, and from collaborations with other clinical trial sites, research groups and biotech/pharmaceutical companies across Europe.

Further details can be found in the opportunities section of the website.

Sign up for the RD-Connect newsletter
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The first RD-Connect newsletter was published this week and all TREAT-NMD colleagues are invited to sign up to receive future news from RD-Connect.

RD-Connect is a global infrastructure linking up data from rare disease research projects in a central resource for researchers across the world. It is developing an integrated platform in which omics data will be combined with clinical phenotype information and biomaterial availability, accessible online in a secure fashion and analysable with advanced bioinformatics tools. Data from research projects including Neuromics, which focuses on neuromuscular and neurodegenerative diseases, will be accessible through the RD-Connect system.

Click here to read the first newsletter.

Click here to sign up to receive future newsletters from RD-Connect.

SKIP-NMD launches website
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The consortium of a recently awarded EU funded project SKIP-NMD that aims to develop and test a novel drug treatment for boys with Duchenne muscular dystrophy (DMD), have now launched their website detailing the project.

SKIP-NMD involves an international team of scientists led by Professor Francesco Muntoni of the UCL Institute of Child Health, London, UK, which commenced in November 2012 and will run for 3 years. The collaboration includes clinicians and researchers from Newcastle University (UK), Royal Holloway, (University of London, UK) Universita’ Cattolica Del Sacro Cuore (Italy) and Institut de Myologie, (France). The project also involves the USA drug company Sarepta Therpaeutics, who will provide the drug, and cover half the drug production and pre-clinical and clinical trial costs. A number of other industrial partners (SYSNAV, France and CRIS, Belgium) will help to develop non-invasive tools to monitor disease progression and potential response to therapeutic intervention.

Since the project began, Royal Holloway, Sarepta Therapeutics and UCL have worked together to identify the best drug formula (SRP-4053) to 'skip’ the area on the affected DMD gene known as ‘exon 53’.  Skipping exon 53 will restore dystrophin production in DMD boys with deletions spanning exons 52, 45-52, 47-52, 48-52, 49-52 and 50-52.  Therefore only a subset of DMD boys will be eligible for this treatment.  The drug is now undergoing pre-clinical tests, with a phase I/IIa clinical trial following on in the autumn of 2014. The website provides details of the project, the timeline of the clinical trial and roles of the partners involved.

Grant holder position for establishment of the European
Technological Platform on Rare Diseases
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The JRC Institute for Health and Consumer Protection is setting up new activities for the support and coordination of European Rare Disease registries. Important in this regard are the harmonisation of registries, data quality standards, definition of minimum core data sets, and interoperability. The tasks will involve close liaison with the Rare Diseases expert communities and patient organisation.

Candidates should have a minimum of 10 years of research experience at post-doctoral level or a minimum of 15 years of research experience after the first degree giving access to doctoral studies in the domains of medicine, genetics, life sciences, health, or related disciplines. Previous extensive experience working in the field of RD and/or epidemiology would be a considerable asset. Candidates will be expected to demonstrate a clear understanding of the issues underlying rare disease registries and of the current situation in Europe. Further details can be found in our opportunities section of the website.

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28th June 2013
TREAT-NMD newsletter - 28th June 2013
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