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29th June 2018
ICNMD, 6-10th July: Come and visit our TREAT-NMD and TACT Teaching Course

The TREAT-NMD secretariat would love to speak to you if you are attending the 15th International Congress on Neuromuscular Diseases (ICNMD), Vienna, Austria, from July 6 – 10, 2018. We would welcome you to come and visit us at our stand to learn more about our valuable tools and resources including TACT and our Global Network of Registries, which are supporting the development of novel therapeutic approaches from pre-clinical development through to the clinic.

TACT will be holding a teaching course on drug development. The course will also include a mock TACT review. It takes place on Friday 6th July at 1.00pm.

To find out more about the Teaching course and programme please click here (details towards bottom of page) and for registration click here.

TREAT-NMD 6th International Conference - SAVE THE DATE!
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We announced in our May newsletter that our next conference will take place in Leiden, Netherlands. We are now pleased to announce that the conference will take place from Monday 9th December – Wednesday 11th December 2019. Please keep checking the TREAT-NMD conference website for updates.

Japanese Remudy Registry Study
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Characteristics of Japanese Patients with Becker Muscular Dystrophy and Intermediate Muscular Dystrophy in a Japanese National Registry of Muscular Dystrophy (Remudy): Heterogeneity and Clinical Variation

The study used data from Remudy, a national registry for neuromuscular diseases in Japan and a member of the TGDOC, to conduct a phenotypic analysis of Becker Muscular Dystrophy (BMD). 192 participants with dystrophinopathy who were aged ≧ 17 and ambulant at age 13 were included in this study. Mean participant age was 34.80±13.3 (range, 17–78) years, and 52.1% of participants were ambulant. Of the entire study population, 50.5% had cardiomyopathy and 35.9% had respiratory failure. Among participants with frequent in-frame mutations, those with the ex45-49del mutation lost their ambulation earlier than those with the ex45 ex47del mutation. We clarified the clinical phenotypes of Japanese patients with BMD/IMD. Our results suggest that not only IMD but also BMD are associated with risk of respiratory dysfunction.

To read the full study, please click here.

Volunteers Needed for Translation of DMD Family Guide
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Three recent papers published in the Lancet Neurology offer updated standards of care (or care considerations) for Duchenne Muscular Dystrophy. Working together with Parent Project Muscular Dystrophy (PPMD), Muscular Dystrophy Association (MDA)World Duchenne Organization (WDO, formerly UPPMD); TREAT-NMD has been involved in finalising a new Family Guide based on these publications. The guide was initially drafted in US English by PPMD with MDA and WDO. TREAT-NMD are now coordinating efforts with WDO to have this guide translated into multiple languages. We are therefore calling for volunteers from the Duchenne community who have sufficient expertise within their national networks to help us achieve this.

The proposal is to have two people (or teams) in each language, one to undertake the translation and the second (preferably a clinician) to verify the translation and cross check it to resolve any discrepancies. We plan to make the translated guides available for download via the TREAT-NMD website as pdfs, with other organisations linking directly to them to ensure they are widely available. They will replace the current guides.

The new translations will carry the logos of PPMD, MDA, WDO and TREAT-NMD along with those of the organisations undertaking that translation. There will be no company sponsorship for any of the translated guides to assure the community of their complete independence. We may seek industry sponsorship for printing of high quality, colour hard copies for distribution in clinics and at events but this is still under discussion.

If you would like to volunteer to be part of this important task, if you have questions, or if you would like to suggest an organisation for us to contact in your country, please get in touch with Cathy Turner, DMD Liaison Coordinator in Newcastle at catherine.turner@ncl.ac.uk as soon as possible or complete the Survey Monkey here.

We are extremely grateful to groups who have already done this – thank you! We would like to have as many of the languages in the network available by World Duchenne Awareness Day on 7 September 2018 where this year’s theme is Standards of Care. Thank you in advance for your help with this important task to ensure that the highest standards of care are available to the whole Duchenne patient community.

Cathy Turner (John Walton Muscular Dystrophy Research Centre, UK), Elizabeth Vroom (World Duchenne Organization, Netherlands)

New JND Issue Published
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A new issue (volume 3, issue 2) of Journal of Neuromuscular Diseases (JND) has been published. JND is dedicated to providing an open forum for original research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases. The journal also aims to support the development of important tools for clinicians and scientists in the field.

The new issue includes a position paper by Lochmuller, et al. – published open access – that focuses on the sharing of clinical research data in the area of spinal muscular atrophy (SMA). The paper follows on from a workshop where discussion highlighted how international collaboration, close interactions between different stakeholders and data sharing have contributed to recent successes in SMA clinical research, including the transnational collaboration of patient organizations in SMA Europe, multi-centric studies into natural history and outcome measures, global trial readiness through registries and biobanks (TREAT-NMD), and commercially sponsored multinational trials.

Read the full commentary article here. The remainder of the issue is made up of an open access review article, that covers the classification of inflammatory myopathies, as well as eleven research articles, two short communications and a case study report. To be sure to be kept up to date with JND’s news and content, you can sign up to receive the newsletter here.

Share4Rare Website Launched
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The website for the Share4Rare project was launched this week at www.share4rare.org. Share4Rare is a European project that aims at building an online platform to connect patients, caregivers, researchers and other stakeholders involved in Rare Diseases. The team at the John Walton Muscular Dystrophy Research Centre at Newcastle is one of the partners involved in the pilot for rare neuromuscular diseases.

New Global Registry for Collagen VI
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The John Walton Muscular Dystrophy Research Centre is developing a new patient registry for Collagen VI related dystrophies.  The registry is funded by the Collagen VI Alliance and it is expected to go live later this summer (in English initially). The registry will be dual entry- allowing both patients and their neuromuscular doctor to enter data.  More information on the registry can be found at www.collagen6.org and the project manager, Dr Alison Blain, can be contacted at Alison.Blain@ncl.ac.uk.

SMA Expert Masterclass - SAVE THE DATE!
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TREAT-NMD are delighted to announce the first SMA Expert Masterclass. It will take place Monday 19th and Tuesday the 20th of November in central Rome, Italy. The masterclass will be Co-Chaired by Professor Eugenio Mercuri and Professor Nathalie Goemans.

The debilitating nature of Spinal Muscular Atrophy (SMA) means that timely diagnosis and effective care are integral to improving the prognosis and quality of life of patients with this life-limiting condition. The two day Expert Masterclass will provide a platform for health care providers to share ideas, challenges and successes in delivering optimal care to people with SMA. It is suitable for multi-disciplinary health care providers who may encounter patients with SMA.

Leading experts will deliver presentations and interactive workshops to disseminate information on:

  • Latest updates on standards of care, outcome measures and patient registries.
  • Current treatment guidelines and available therapy options with review of market access options in Europe.

There will be a small registration fee, TREAT-NMD will be providing sponsorship for a limited number of spaces. You may also be able to receive sponsorship from pharmaceutical companies. Full programme and further details to come soon.

To register your interest for the masterclass, please click here. For further information please contact the Masterclass co-ordinator Nicole O'Connor.

Conect4children (c4c)
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Conect4children (c4c) is a large collaborative European network that aims to facilitate the development of new drugs and other therapies for the entire paediatric population. It will meet the needs of paediatric patients through collaboration between the academic and the private sectors, which includes 43 partners from 20 European countries.

TREAT-NMD will work with the project to establish data-standards and principles to ensure c4c can provide a sustainable, integrated platform for the efficient and swift delivery of high quality clinical trials in children and young people across all conditions and phases of the drug development process. TREAT-NMD will also share established and successful models of education and training such as registries, TACT and masterclasses in order to benefit clinical trials in wider disease areas.

Annual Enpr-EMA workshop
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The 10th annual workshop of Enpr-EMA (European Network of Paediatric Research at the European Medicines Agency) was held on the 7–8th June 2018 at the EMA and brought relevant stakeholders (including TREAT-NMD) together to work around this year’s them: ‘holistic approach to paediatric research’.

Enpr-EMA is a network of research networks, investigators and centres with recognised expertise in performing clinical studies in children. Enpr-EMA's main objective is to facilitate studies in order to increase availability of medicinal products authorised for use in the paediatric population, by:

  • Fostering high-quality, ethical research on the quality, safety and efficacy of medicines for use in children;
  • Helping with the recruitment of patients for clinical trials;
  • Enabling collaboration between networks and stakeholders;
  • Avoiding unnecessary duplication of studies;
  • Building up scientific and administrative competence at a European level;
  • Promoting European Commission framework programme applications

At the first day of the workshop participants heard about the latest developments of Enpr-EMA’s activities to foster high-quality research in the area of paediatric medicine. The second day of the workshop was reserved for discussions among the members of Enpr-EMA and its coordinating group, who defined priority tasks for 2018–19 based on the feedback received from stakeholders.

Publication: P-PMOs Positive Effect on Cardiac Function in DMD Mouse Models
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Peptide-conjugated phosphodiamidate oligomer-mediated exon skipping has benefits for cardiac function in mdx and Cmah-/-mdx mouse models of Duchenne muscular dystrophy

Researchers at the John Walton Muscular Dystrophy Research Centre in collaboration with the labs of Mike Gait (MRC Laboratory of Molecular Biology) and Matthew Wood  (University of Oxford) have recently published research funded by AFM Téléthon investigating the efficacy of P-PMO mediated exon skipping in mdx and Cmah-/-mdx mouse models of DMD.

The effects of exon skipping were assessed by both cardiac MRI and conductance catheter in these mice models and the Cmah-/-mdx mice were characterised longitudinally. Novel findings of the paper suggest that P-PMOs have both direct effects on the myocardium as well as indirect effects on the vasculature.  The authors also describe an abnormal dobutamine response in Cmah-/-mdx mice which is not present in mdx.

Overall, the data suggest that P-PMOs can restore modest but significant levels of dystrophin in the heart and that this can have a positive effect on cardiac function in two mouse models of DMD. To read the full publication, please click here.

Webcast: Update of the Standard of Care Recommendations for SMA
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A roundtable webcast on ‘The 2017 Update of the Standard of Care Recommendations for SMA’ with Dr Finkel and Dr Crawford has been developed, and is now available to healthcare professionals who are responsible for the diagnosis, treatment and management of patients with Spinal Muscular Atrophy (SMA).

This SMA webcast is an educational course that is ACCME accredited with 1 AMA PRA Category 1 Credit, and is hosted on the Elsevier CME platform

This SMA webcast was developed within an Educational Grant under Ology Medical Education (previous brand name Excerpta Medica Independent).

Muscle Biopsy Videos
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The National Center of Neurology and Psychiatry (NCNP) and AGADA BioSciences have produced two videos on how to perform a muscle biopsy procedure.

A muscle biopsy is a procedure that involves the removal of muscle tissue. The sample of tissue can then be examined and tested chemically in a laboratory.

To view both videos, please click here.

Please be aware that TREAT-NMD does not endorse the videos demonstrating this surgical procedure.

MDF Annual Conference
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The Myotonic Dystrophy Foundation have announced that their Annual Conference will take place from 14th-15th September 2018 in Nashville, USA. This year’s conference will feature networking, symptom management and research update sessions for community members and a full-day closed research and drug development track for academic and industry professionals.

This year's conference will gather more than 400 families, clinicians, researchers, industry representatives and caregivers working to improve the lives of people living with myotonic dystrophy. Community members at the 2018 MDF Annual Conference will learn about daily living and disease management strategies, find new resources, products and services, hear research and drug development progress updates and create new friendships and support options via networking and community-building opportunities.

Professionals attending the 2018 MDF Annual Conference can select from a compelling array of closed professional meetings and sessions building on the work of IDMC-11 and research and drug development advances in myotonic dystrophy, including these highlights:

  • Drug Development Roundtable
  • Current Advances in DM2 Research
  • Molecular & Imaging Biomarker Development for DM Studies
  • DM Disease Burden: Results of Recent Studies
  • Gene Therapy Development for DM

Professionals are invited to submit abstracts for the Friday afternoon Poster Session.

For more information and to register, please click here.

TREAT-NMD Welcomes your Articles and Events for the Newsletter
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Interested in submitting an article or event? We invite news (including conference/workshop summaries), articles and upcoming events concerning all aspects of translational research and for all neuromuscular disorders. To submit an article or event please click here.

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Translational Summer School

2-6 July 2018

Newcastle upon Tyne, UK

This five-day summer school has been developed for researchers and clinicians interested in translational research. This course will address the following aspects of translational research as it travels along this established pathway.

  • Bench to bedside research
  • Regulatory system
  • Clinical trials
  • Outcome measures
  • Patient communication
  • Registries and biobanks
  • Biomarkers and –omics

Approximately 24 participants will be based at the Institute for Genetic Medicine, part of Newcastle University in the UK for the duration of the summer school.

During their stay, they will discover how networks such as the European Reference Network EURO-NMD and TREAT-NMD work and collaborate with patients and regulators to facilitate therapy development. Aspects such as standards of care, outcome measure development, biomarkers and others will be developed during the week. Attendees will also learn about the various interactions that take place between key stakeholders.

Attendees will learn how the regulatory system works, take part in a TACT style review and discuss ethical issues in clinical trials.

In addition, attendees will find out about various outcome measures and gain an appreciation of the need for standardisation and training in this area. They will participate in a clinical trial practicality forum as well as a patient communication workshop to demonstrate the results of both good and poor communication.

This comprehensive course will serve as a superb foundation for those wanting to steer their medical or research career in the direction of neuromuscular diseases whilst contacts made as a result of attending will, no doubt, prove to be invaluable.

Attendees who complete this course will not only be furnished with knowledge of the many different aspects that are involved in translational research but will also gain a deeper understanding and compassion for those involved in the whole trial process from researcher to patient.

For more information, please click here.

TREAT-NMD Advisory Committee for Theraputics (TACT)

3-5 July

Vienna, Austria

Of the many promising research results presented at conferences, published in journals and hailed as the basis for possible future treatments and cures, few progress into clinical trial. Evaluating the therapeutic potential of drugs seemingly ready for this step is a challenge not only for the patients who build hope on preclinical results and for the potential funders and industry sponsors of the research, but also for the researchers themselves.

Established in 2009, the TREAT-NMD Advisory Committee for Therapeutics (TACT) is a unique multi-disciplinary international group of well recognised academic and industry drug development experts as well as patient representatives and institutional, governmental, scientific, research centres, who meet twice a year to review and provide guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases. This meeting will take place at the Hilton, Vienna.

The confidential and comprehensive review provides recommendations including go-no-go milestones, is independent of any funding stream however it may enable subsequent funding.

If you are interested in submitting an application to TACT, please contact Cathy Turner.


6-10 July

Vienna, Austria

The ICNMD 15th international conference is organized on behalf of the Applied Research Group on Neuromuscular Disorders of the World Federation of Neurology. The aim of the Congress is to present a wide spectrum of neuromuscular diseases from the perspectives of advances in research, diagnosis and treatment.

The conference will consist of scientific sessions including plenary lectures and scientific teaching courses, workshops and poster presentations. The Congress will also offer virtual conferences and of course there will also be time for attendees to interact and exchange knowledge and ideas with their esteemed colleagues.

The congress hopes that attendees will gain an updated view on neuromuscular disorders and that the networking opportunities will increase their international experience and collaborations. The scientific and program committee have been invited from all continents around the world to enable this wide spectrum.

For more information and to register, please click here.

Zebrafish Disease Models Conference (ZDM11)

10-13 July

Leiden, Netherlands

The aim of the Zebrafish Disease Model Conference is to increase understanding of the mechanisms that cause human disease and use this information to develop novel therapies.  The conference organisers expect delegates from academic, clinical and industrial environments to gather together to report their latest findings in the fields of cancer, infection, inflammation, immunity, hematology, cardiovascular, neurological and skeletal disease as well as drug discovery, and more. Scientists from Asia, Europe, North America, Australia and New Zealand will come together to share their expertise in advanced imaging, bioinformatics, genetics, genomics, metabolism and toxicology.

For more information, please click here.

Summer Newsletter Dates
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We are amending the Newsletter dates over the summer.  The next Newlsetter will be published on the 17th August, then from September we will go back to our monthly publication dates of the last Friday or every month.

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29th June 2018
TREAT-NMD newsletter - 29th June 2018
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