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31st January 2014
Myotubular and centronuclear myopathy disease section goes live!

A new disease section for Myotubular (Centronuclear) Myopathy has been launched on the TREAT-NMD website.

Myotubular (Centronuclear) Myopathy are a group of very rare conditions characterised by the central location of the nucleus in muscle cells, in which it is normally found at the periphery. Myotubular myopathy normally refers to the X linked form described, but in this section we also provide information about other manifistantions of the condition.

Our new section contains more information about the genetics of the disease along with links to the patient organisations and patient registries available to support people affected. More information about Myotubular (Centronuclear) Myopathy can now be found on our website, select the blue disease information button on the menu bar.

Important new phenotype search facility, PhenoSearch,
launched on the CTSR
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The PhenoSearch facility within the Care and Trial Site Registry (CTSR) was launched on 22 January 2014 and you can now enter information in order to seek and contact colleagues who see patients or families with a similar phenotype. If you have registered in the CTSR, a network of more than 300 clinical centres that see patients with neuromuscular and neurodegenerative disease, you will also be able to view cases already posted and identify those of interest to your research where collaboration might be possible.

This is a really important and significant expansion of the CTSR which will make it easier for researchers and clinicians across the world to share information about puzzling cases or undiagnosed patients and which will hopefully facilitate collaboration between groups through ‘match-making’ those with similar cases.

PhenoSearch allows you to list a working diagnosis, description of clinical phenotype, results of any investigations, mode of inheritance and photos which do not identify the patient. Other members of the CTSR will be alerted to the new post by email and can view the details securely by logging in.

Now that the CTSR has been extended to include sites which see neurodegenerative patients as well as those with neuromuscular disease, PhenoSearch will be of great benefit within and across both these disease fields.

The addition of this new facility and the expansion of the CTSR to cover neurodegenerative conditions was undertaken as part of an EU FP7-funded research project into rare neuromuscular and neurodegenerative disease, Neuromics.

To find out more about this development of the registry, to view posted cases or to submit details of your own patients, simply log on to your CTSR account and select the ‘PhenoSearch’ option from the left hand menu.

If you have any technical questions, please contact Kirsten König.

For general queries about Neuromics, contact Cathy Turner.

New Journal of Neuromuscular Diseases launched
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We are delighted to announce the forthcoming launch of the Journal of Neuromuscular Diseases, a new high-quality journal giving equal weight to original research  in basic science, translational research and clinical studies in neuromuscular diseases and related disorders. The journal, edited by Hanns Lochmüller (Newcastle University) and Carsten Bönnemann (NIH), will be launched later this year.

The journal is now accepting papers. It offers a first class Editorial Board, rigorous peer review and rapid online publication (pre-print) on acceptance.All articles published this year will be Open access with no article processing fee.

Standard protocols for preclinical research:
news and updates
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Animal models are very valuable in improving understanding of disease pathogenesis, and in developing therapeutic interventions, provided that experiments are carefully designed, interpreted and reported. Therefore, the transparency, reproducibility and also the predictive power of research results can be significantly increased by adopting standard operating protocols (SOPs) in assessing outcome measures in preclinical efficacy assays.

One of the main priorities of the TREAT-NMD Alliance is therefore to maintain the quality of the model-specific SOPs on its website, produced with the collaboration of acknowledged experts in the field worldwide, and to expand to other areas of disease. With this goal, TREAT-NMD Task force members and CureCMD, supported by an AFM grant, set up to enlarge the number of SOPs available to the community for preclinical assays on cell lines and on mammalian models of congenital muscular dystrophies. During a workshop held in Washington, D.C., in April 2013, relevant assays and assessments were defined and working groups were set to elaborate protocols. Three new protocols were recently added to those already available for these animal models, additional ones will follow. Four protocols are planned to be published in the Journal of Visualized Experiments.

Standard protocols for mouse models of Duchenne muscular dystrophy and spinal muscular atrophy are presently undergoing the regular update to keep track of technical progress and newer techniques. The use of common protocols in preclinical research is a valuable tool to raise the impact of project proposals and to allow pooling of results from different labs in the evaluation of treatments efficacy.

RD-Connect one year on
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The three linked projects funded by the European Commission as flagship “omics” research projects under the International Rare Diseases Research Consortium are now just over a year old. As they gear up for their annual joint meeting, RD-Connect, Neuromics and EURenOmics are also reflecting on their achievements in their first year of operation and planning their next steps.

RD-Connect has published its annual update, which provides further information on its progress towards creating a central resource for researchers working on rare disease and its efforts towards a culture of data sharing for the benefit of the broader research community. For full details see the news item on the RD-Connect website.

FOR-DMD website - key areas now available in Italian
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We are delighted to announce that key areas of the FOR-DMD (Finding the Optimum Regimen of Corticosteroids for DMD) website are now available in Italian to cater for the six study centres currently recruiting in Italy. The FOR-DMD study which compares daily prednisone and deflazacort regimes against one of the more commonly used alternative regimes is funded by the NIH. The study is led by Dr. Robert Griggs from the University of Rochester in the USA and Prof Kate Bushby from Newcastle University in the UK, linking the Muscle Study Group and TREAT-NMD network in this joint initiative.

The first patient was recruited to the study in January 2013. Three hundred children aged between 4 and 7 years, who have not previously been on steroids, will be recruited and followed for at least three years. The trial is carried out across more than 40 sites in five different countries (UK, Germany, Italy, US and Canada). For further details please visit the FOR-DMD website.

Rare Disease EU projects kick off in style!
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Two recently funded FP7 projects in Duchenne Muscular Dystrophy (DMD) research are now well and truly underway.

BIOIMAGE–NMD had its kick-off meeting in London on 26 November 2013. The project will develop and apply imaging technology to monitor response to novel therapies in neuromuscular diseases and will use DMD as an exemplar disease. Quantitative Magnetic Resonance Imaging (MRI) and Magnetic Resonance Spectroscopic Imaging (MRSI) will be used to assess muscle pathology. The project will also develop pre-clinical Positron Emission Tomography (PET)/MRI to assess the tissue targeting, bio-distribution and pharmacokinetics of antisense oligonucleotides in vivo.

A total of 25 representatives from academic and industry partners attended the kick-off meeting to discuss the aims and objectives of this project. Partners include Newcastle University (UK; project coordination), University College London (UK); the Institute of Myology (Paris, France); Leiden University Medical Centre (The Netherlands); Universita Cattolica del Sacro Cuore (Rome, Italy), the Katholieke Universiteit Leuven (Belgium), Prosensa (Leiden, The Netherlands), SCITO (Paris, France), and Consultants for Research in Imaging and Spectroscopy (CRIS; Liège, Belgium).

Just two months later, on the 28 January 2014, many of these partners gathered in London again, this time to discuss the FP7 funded SCOPE-DMD project. The main goal of this project is to further advance and accelerate the development of PRO045, an exon-skipping compound for DMD. PRO045 is currently in a Phase IIb dose-escalating clinical trial to assess its safety and efficacy.

The partners involved in both these projects are fully committed to delivering their objectives, as well as to providing updates and working closely with the DMD community in Europe and further afield.

Discussion on development of tool for measurement of upper limb
performance - download podcast
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The published paper about the 'Development of a Performance of Upper Limb module for Duchenne muscular dystrophy' which is a tool specifically designed and developed for assessing upper limb function in ambulant and non-ambulant patients with DMD was recently discussed by Dr Anna Mayhew and Professor Andrea Bialocerkowski.

The development of this tool has been a joint venture between PPMD and TREAT-NMD. The recording of the discussion has been made in to a podcast.

This is now available on the TREAT-NMD website via youTube. Alternatively it can be downloaded from iTunes whilst the paper itself is available for download here.

TACT announces review dates for 2014
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In 2013, the TREAT-NMD Advisory Committee for Therapeutics (TACT) reviewed a total of five applications in the areas of Duchenne Muscular Dystrophy (DMD) and inclusion body myositis (IBM). All non-confidential summaries from these applications are now available from the TACT section of the TREAT-NMD website.

Looking forward into 2014, the dates and locations of the 9th and 10th TACT review meetings have now been confirmed as 10-11 May in Berlin, Germany followed by 25-27 October in Chicago, USA.

Anyone wishing to submit a proposal for these meetings should contact Louise Johnston from the TACT secretariat, as soon as possible.

Registration being taken for 7th Annual Neuromuscular
Translational Research Conference
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The 7th Annual Neuromuscular Translational Research Conference will take place 3-4 March 2014. This two‐day conference aims to showcase the best UK neuromuscular science, and highlight its translation into patient benefit.

The conference includes speakers providing state of the art overviews, as well as platform and poster presentations from submitted abstracts. Both days are designed to engage basic and clinical neuromuscular scientists and neuromuscular clinicians.

Registrations for the conference, which is hosted by the MRC Centre and MDC in London, cost £250.

Key Disease Themes for 2014:

-  Cell-Based Therapies and IPS Cells
-  Protein Homeostasis and Neuromuscular Diseases
-  Antisense Oligonucleotide Therapies
-  MRI in Neuromuscular Diseases

Further details can be found on the conference website.

Fondazione Telethon - Research Program Manager required
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The Italian biomedical charity, Fondazione Telethon which funds research on genetic diseases, is currently looking to fill a position for Research Program Manager in its Scientific Office, based in Milan.

The successful candidate will play an essential role in ensuring that the Telethon peer review process identifies the most promising research grant applications. Moreover, he/she will be engaged in the management of national and international programs and alliance initiatives involving researchers and patient organizations.

Closing date for applications is 28 February 2014.

Further information can be found in the opportunities section of our website.

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31st January 2014
TREAT-NMD newsletter - 31th January 2014
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