27th June 2014
COST Action project MYO–MRI kicks off in Milan!

The COST Action BM1304 project MYO-MRI held its first Working Group meeting in Milan, on 16-18 May. More than 50 researchers and scientists from across Europe and the US and from a range of disciplines, met in Milan to discuss a variety of topics around neuromuscular imaging.

The MYO-MRI project was approved in June 2013 by the BMBS Domain and held its first official Management Committee meeting in December 2013 in Brussels.

The MYO-MRI project will roll out the use of magnetic resonance (MR) techniques by sharing expertise and data, validating protocols across platforms and by exploring the potential of magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) as a diagnostic tool and as a quantitative outcome measure in NMD clinical trials. Through standardizing the applications of MRI and MRS in NMD, the training of early stage researchers and the development of an online atlas of neuromuscular imaging, the project will enhance the knowledge and expertise of scientists and healthcare professionals and ultimately benefit patients with NMD.

MYO-MRI is divided into four Working Groups that will each focus on a related objective. These objectives are: Improve diagnosis and understanding of muscle pathology (WG1); Develop multicentric outcome measures (OMs) (WG2); Explore new contrasts, new targets and new imaging techniques for NMD (WG3) and; Explore strategies for muscle imaging texture analysis (WG4).

The funding that the COST Action MYO - MRI receives from COST supports a range of activities including; meetings, conferences, workshops, short-term scientific missions, training schools, publications and dissemination activities.

At the Working Groups meeting in Milan different experts from across Europe and the US were able, for the first time, to get together to share knowledge and experience, discuss the objectives within dedicated Working Group sessions and to plan activities for the next 6-12 months.

MYO-MRI is governed by a Management Committee, which has overall responsibility to guide activities and manage financial progress of the project, and to ensure that the aims and objectives are achieved. Currently, 16 COST countries are represented on this Management Committee - Belgium, Croatia, Denmark, Finland, France, Germany, Greece, Italy, Malta, Netherlands, Norway, Poland, Portugal, Spain, Switzerland and United Kingdom.

Individuals from countries not yet represented, and with an interest in joining MYO-MRI, can contact Prof Volker Straub, MYO-MRI Chair to discuss participation. Please direct your emails to Olav Veldhuizen

PPMD submits FDA draft guidance on
Duchenne muscular dystrophy
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Parent Project Muscular Dystrophy (PPMD) has submitted to the US Food and Drug Administration (FDA) its draft guidance on DMD therapy development: 'Duchenne Muscular Dystrophy - Development Drugs for Treatment over the Spectrum of Disease'. More than 80 representatives from the Duchenne community - including parents and patients, medical experts, academics, and biopharmaceutical industry representatives - participated in seven working groups that met over the past six months to draft the guidance. This is the first time the drafting of such a document has been coordinated by a patient organization.

The draft includes several 'areas of focus': benefit/risk assessment, diagnosis, natural history, clinical trial designs, outcome measures and considerations and biomarkers. The guidance encourages the FDA and trial sponsors to engage patients and their families at all stages of trial development, and to take into account what they consider acceptable risk in clinical trials.

Visit the PPMD website to read the draft guidance document, find out more about the process behind its development, and discover the next steps in the process.

Journal of Neuromuscular diseases goes live
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This month saw the launch of the Journal of Neuromuscular Diseases, a new high-quality journal edited by Hanns Lochmüller (Newcastle University) and Carsten Bönnemann (NIH), giving equal weight to original research in basic science, translational research and clinical studies in neuromuscular diseases and related disorders. The launch issue of the journal is openly available here and print issues will be freely distributed at the 13th International Congress on Neuromuscular Diseases in Nice.

Authors can submit their manuscript here. The journal offers a first class Editorial Board, rigorous peer review and a rapid online publication (pre-print) on acceptance. All articles published within the first two years will be Open Access with no article processing fee.

Spanish translation of 'The Diagnosis and Management
of Duchenne muscular dystrophy' now available
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A Spanish translation of the Lancet Neurology article "The Diagnosis and Management of Duchenne muscular dystrophy" is now available for download thanks to the work of the Mexican DMD Patient organisation UPA! Cura Duchenne.

This provides comprehensive information on best-practice care for DMD to Spanish speakers around the world, and joins the Czech and Russian translations available at the TREAT-NMD website. The translation will be particularly useful to all Spanish-speaking medical professionals who care for patients with DMD.

AllTrails campaigns to ensure information
about all clinical trials is available
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Did you know that the results from about half of clinical trials have never been published?

Information on what was done and what was found in these trials could be lost to doctors and researchers forever, leading to bad treatment decisions, missed opportunities for good medicine, and trials being repeated. The contributions of the hundreds of thousands of patients who took part in those trials remain both unused and unusable.

Approximately 75,000 people and more than 450 organisations have already joined the campaign for all clinical trials past and present to be registered with the full methods and the results reported. Public pressure is already changing regulations and getting past trials published in some countries.

The TREAT-NMD Alliance supports this campaign which aims to ensure transparency and disclosure of data from all clinical studies. This is an attempt to better educate the community and bring forward well-designed trials that better serve the limited patient populations affected with these rare diseases. Find out more about the campaign on the AllTrials website.

Five new unsolved cases have been posted onto PhenoSearch
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PhenoSearch is a recently launched facility on the Care and Trial Site Registry (CTSR) which allows clinicians to post details of unusual, unsolved cases for which they are trying to find a phenotypic match. These cases are available to registered members of the CTSR upon log-in – this includes members of more than 300 clinical centres specialising in neuromuscular and/or neurodegenerative conditions.

PhenoSearch hopes to have a wide reach via the CTSR across the globe in the search for phenotypic matches and second families. The information it captures is descriptive, easy to access and will usually include photos to support the clinical description. Each case contains the following details laid out on a single page:

- Working diagnosis: e.g. childhood myopathy with muscle hypertrophy, lipodystrophy and scoliosis

- Clinical phenotype: concise but detailed description of phenotype

- Investigational results: details of tests carried out and results obtained, including normal results and ruled out conditions

- Mode of inheritance: also included if known

- Contact data for the investigator: in order that direct contact can be made – this does not need to be via the CTSR

- Photos/images: these may be uploaded to help describe the case

Email alerts are sent to those people with a registered account in the CTSR whenever a new case is uploaded. Please visit the Care and Trial Site Registry to access PhenoSearch, view the current cases or upload one of your own. If you need help logging on or would like to set up a new account, please contact Kirsten König.

The CTSR has just released its first dedicated newsletter. Find out more about the CTSR registry and what it is doing to help the wider neuromuscular community by downloading your own copy of the newsletter here.

PhenoSearch was established as part of the ongoing FP7-funded NeurOmics project which is carrying out research into rare neuromuscular and neurodegenerative diseases. More information can be found at: www.rd-neuromics.eu.

Committee for Medicinal Products for Human Use recommends
conditional marketing authorisation of Ataluren
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On 22 May 2014, following a re-examination procedure, the Committee for Medicinal Products for Human Use (CHMP) recommended that a conditional marketing authorisation for the medicinal product Translarna be granted. Translarna (Ataluren) was designated as an orphan medicinal product on 27 May 2005 and the applicant for this medical product is PTC Therapeutics Limited.

Translarna is for use in patients over the age of 5 years old who are still walking and have DMD that is caused by certain genetic defects in their dystrophin gene (called nonsense mutations) which prematurely stop the production of a normal dystrophin protein. These defects leads to the creation of a shortened dystrophin protein that does not function properly which in turn leads to muscle wastage. The drug is thought to work in these patients by enabling the protein-making apparatus in cells to skip over the defect, allowing the cells to produce a functional dystrophin protein.

Translarna was investigated in a pivotal study involving 174 patients with DMD. The results showed some evidence of efficacy of Translarna in slowing down the loss of walking ability in DMD patients. However, as part of the conditional marketing authorisation, the company will be required to provide comprehensive data on the efficacy of Translarna from an ongoing confirmatory study. Read the full report on the EMA website.

ENMC workshop on Care for Adults with DMD: lay report available
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The 206th ENMC Workshop on Care for Adults with DMD took place on 23-25 May at Naarden in the Netherlands. With improved care, many children with DMD are now living well into adulthood. The workshop brought together clinical experts, patient organisation representatives, and two adults living with DMD in order to share best-practice, identify the specific needs of adults with DMD, and set out priorities for further research and care guidance.

A full lay report of the workshop is available on the ENMC website, whilst one of the adult "expert patients" who attended, Peter Mikkelson, has been interviewed about his experience and the value of his contribution. The other adult with DMD at the meeting, Dr Jon Hastie, is Chair of a new charity for (and led by) adults with DMD - the DMD Pathfinders. Growing out of a closed Facebook group with over 300 members worldwide, the charity aims to support adults with DMD live productive, fulfilling and independent lives.

Sudden cardiac death in Duchenne muscular dystrophy:
Incidence and Prevention Patient Registry
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Dr Linda Cripe (Nationwide Children's Hospital in Columbus, Ohio, US) is conducting an international study on cardiac care for those living with advanced DMD. This seeks to determine the incidence of Sudden Cardiac Death in this population, and determine the relative risk/benefit of cardioverter-defibrillators (ICDs) as a preventative measure. The recent ENMC Workshop on Adult Care in DMD highlighted that a better understanding of cardiac risks faced by teenagers and adults with DMD is necessary to improve treatment for this group of patients, and this study will help to improve our understanding of this. The study will be via an international registry, open to patients aged 10 years and older with an ejection fraction (LVEF) of less than 35%. Further information about the registry please contact Linda Cripe.

Cyprus launches neuromuscular disease registry
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We are delighted to announce the launch of the Cypriot Neuromuscular Diseases (NMDcy) Registry (for DMD). This is a Cypriot-wide registry of patients diagnosed with neuromuscular diseases. The aim of the NMDcy is the collection of important medical information from patients across the country, in order to enhance the quality of life of the patients by providing information on neuromuscular diseases in general and about ongoing clinical trials. The NMDcy runs in association with the Cyprus Muscular Dystrophy Association and the Institute of Medical Rehabilitation.

Throughout 2014 the Open University of Cyprus will use the statistical information that is going to be collected by the NMDcy in an ongoing research regarding the quality of life of the patients with Duchenne Muscular Dystrophy.

Dr. Nikoletta Nikoleko is the supervisor of the NMDcy as well as the curator of the DMD registry and can be contacted by e-mail at dr.nicolenko@gmail.com or by phone- +35799520124.

For more information about the reigstry or to register please visit: http://nmdcy.org/

New set of standardized protocols for CMD research
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The use of standardized and commonly agreed upon experimental protocols is a requirement to improve the quality of preclinical efficacy study, especially if these are to justify the conduction of costly human trials. In the last years, the commercial availability of a mouse model for the merosin deficient congenital muscle dystrophy has given a great input to the research on this devastating disease.

The research community met in April 2013 at a workshop in Washington DC, organized by Cure CMD and supported by AFM, A Foundation Building Strength and The Joshua Frase Foundation, to reach a consensus on commonly used experimental protocols worth standardizing. As a result, a set of new standard protocols for functional and behavioural assays in mice and for cell line work was set up in collaboration with experts in the field of each protocol. It is now available for download on www.curecmd.org, www.fsrmm.ch and also from the CMD section of the TREAT-NMD website.

European Paediatric Neurology Society's 4th research meeting
register now to take advantage of early bird discount rate
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Registration is now open for the European Paediatric Neurology Society’s 4th Research Conference which will be held on 12-13 September in Bucharest, Romania.

The conference acts as a forum where researchers in the field of paediatric neurology can present their work and results, discuss ideas and develop new collaborative relationships with fellow researchers.

This year’s conference will retain its same successful structure beginning with two plenary sessions the first one focussing on dystonia followed by a European grants and networking session.

Several parallel working groups, including one on Neuromuscular disorders, have also been organized providing an opportunity for researchers at different stages of their careers to interact and debate various pre-arranged topics. Suggested topics for the Neuromuscular group this year include SMA trials, MRI in NMDs, and pulmonary outcome measures in NMDs . At the end of the conference each group will then be expected to present a summary of their work.

The two young neurologists who present the most outstanding and innovative ideas in the area of paediatric neurology will be awarded the EPNS research prize.

A number of bursaries are available with the deadline for applications being 1 July. The deadline for the early bird discounted registration is 1 August.

Details of the full programme, group sessions, general information about the conference and how to register can all be found on the EPNS website.

Neuromuscular disease network will enhance Canadian
research and clinical care
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The University of Calgary’s Hotchkiss Brain Institute (HBI), Canadian Institutes of Health Research (CIHR), and Muscular Dystrophy Canada, have jointly announced the launch of the Canadian Neuromuscular Disease Network. The network is a critical initiative, organizing neuromuscular disease clinical care and research personnel across Canada. It will empower patients and families through improved access to needed information, resources, and connections with each other through a patient portal.

“Neuromuscular diseases are individually rare but as a group they affect many Canadians. This partnership with the patient community is the only way forward in the process of developing and testing potential treatments,” says the network Chair, Dr. Lawrence Korngut, a researcher at University of Calgary in the Department of Clinical Neurosciences and a member of the HBI.

The new network plans to enhance the delivery of clinical care, increase capacity and collaboration as well as improve training opportunities for researchers and clinical care providers. Find out more about the network by watching their YouTube Video.

New translations of DMD Care Considerations
and DMD Imperatives available
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Feedback on the recently published DMD Imperatives leaflet has been very positive and thanks to translators around the world the document is now available in several additional languages: Finnish, Dutch, Portuguese, and Arabic. Other translations are in progress, including German and Russian.

We would still be delighted to hear from anyone who could translate this one-page guide to best-practice DMD care into their own language. Please contact the TREAT-NMD Secretariat if you can help.

TREAT-NMD Advisory Committee for Therapeutics highlight
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As reported in last month’s newsletter, the TREAT-NMD Advisory Committee for Therapeutics (TACT) reviewed two applications at the 9th TACT review meeting which took place on 10 May in Berlin, Germany:

1. Viral vector containing DNA coding for the human SMN protein; for treatment of 5q spinal muscular atrophy. Mimoun Azzouz, University of Sheffield, United Kingdom

2. TXA127 for the treatment of muscular dystrophies. Richard Franklin, Tarix Orphan LLC, Cambridge, Massachusetts, USA

Confidential reports have been sent to the applicants and the non-confidential summaries will soon be available on the TREAT-NMD website. TACT would once again like to thank Parent Project Muscular Dystrophy, Cure Duchenne and SMA Europe for co-sponsoring this meeting.

The Chair and Secretariat will soon be reviewing pre- applications for the 10th TACT meeting which will be taking place in Chicago, USA between 25–26 October 2014. The deadline for submitting a pre-application for this meeting is 30 June 2014.

Dates have also been announced for the TACT review meetings in 2015: 11th TACT 28-29 March (Europe) and 12th TACT 17-18 October (USA). Anyone wishing to submit a proposal for any of these reviews should contact the TACT secretariat via Louise Johnston as soon as possible or visit the TACT section of the website for more details of the application process.

A report from the International Neuromuscular
Symposium - Santiago, Chile
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Over 80 various key stakeholders from the Chilean neuromuscular community and beyond attended the International Neuromuscular Symposium in Santiago on 12 June 2014.

Organized by Dr. Pablo Caviedes, Dr. Ana María Cárdenas and Dr. Jorge Bevilacqua the symposium was entitled “Update in Neuromuscular Pathologies of Genetic Origin. Role of dysferlin and Dynamin-2 mutations”.

The main aims of the symposium were to summarize the advances of the collaborative research projects between Chile and France on dyferlinopathies and dynaminopathies, to discuss current trends, and also to enhance awareness on hereditary myopathies.

During the symposium both the clinical findings of Chilean patients and the molecular and cellular pathophysiological mechanisms of dysferlinopathy and dynaminopathy were highlighted and discussed. Experimental models and results were presented and the genetic findings of the Chilean patients with dysferlinopathy and novel genetic diagnostic and therapeutic strategies were also detailed.

Most importantly presentations from patients and patient associations (DiMus Chile and FAME Chile) provided a unique and poignant insight as to what life in Chile is like for those affected by a dysferlinopathy.

The meeting was regarded as a very rewarding experience for everyone involved and it is hoped that it will serve as a foundation for future meetings.

Meeting participants included:
Dr. Marc Bartoli & Dr. Yves Mathieu - Translational Myology, Hôpital de la Tmone and University of Marseille, France
Dr. Marc Bitoun - Institut of Myology, Hôpital pitié-Salpetriere, Paris, France

Meeting made possible by:
Rings ACT1121 Molecular and cellular mechanisms of muscular dystrophy related to mutations of dysferlin
FONDECYT 1110159, "Clinical and genetic characterization of dysferlinopathy and related pathologies in the Chilean population"

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27th June 2014
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