28th July 2017
New TREAT-NMD Publication - 10 Years of Achievements in the Neuromuscular Field

The TREAT-NMD (Translational Research in Europe for the Assessment and Treatment for Neuromuscular Disorders) Alliance is delighted to announce the recent publication of a review article in the Journal of Neuropediatrics.

The review highlights the key achievements of the network, which spans a decade and the successful partnership with our stakeholders who have enabled the field to identify and address challenges to therapeutic development and standard of care for patients. The article also outlines future perspectives and challenges including ongoing debates on the cost-effectiveness of approved drugs and their potential for reimbursement within health systems.

To read the full article, please click here.

UK FSHD Patient Registry Newsletter (Summer Edition)
Now Available
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The new UK FSHD Patient Registry Newsletter (summer 2017 edition) has been published and can be viewed or downloaded online by clicking here.

The newsletter is used as a way of informing patients and families, as well as doctors, about what is going on with the registry as well as anything else related to FSHD.

This edition includes:

  • What is Clinical Research? - Different Types of Clinical Research
  • How are trials designed?
  • Who can take part in clinical trials?
  • How do we know if a clinical trial is successful?
  • Ongoing clinical research studies in FSHD.

For more information on the UK FSHD Patient Registry, including how to participate or contribute to future editions of the newsletter, please contact Phillip Cammish.

First Meeting of Neuromuscular ERN - Registration Now Open
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EURO-NMD the European Reference Network (ERN) for neuromuscular diseases is organising their first ever face to face meeting. Healthcare providers from across the network will be attending this one day meeting on 30th November 2017 in Freiburg Germany, which will be held the day after the TREAT-NMD conference ends.

Attendance is not only limited to the network's healthcare providers and anyone is welcome to register. Registration is now underway via the EURO-NMD website and costs €100 per person.

The programme will include a number of panel discussions around the different disease groups, diagnostic tools and there will also be a session focussing on interesting unsolved cases.

This is a very important first face to face meeting for this exciting new network whilst also being your chance to connect with those people directly involved in the ERN.

Find out more about the meeting and indeed the ERN itself by visiting the network's website.

New Review on the Epidemiology of SMA
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With the recent market authorization of the first medicine (Spinraza/Nusinersen) for Spinal Muscular Atrophy (SMA) and the development of other therapies, the knowledge about the epidemiology of SMA becomes more and more important. However, a review of the literature showed that very little research assessing its prevalence and/or incidence have been performed and that most studies were outdated and performed in small areas.

In recent years, after the discovery of the genetic cause of SMA, the carrier frequency has been studied more elaborately. Studies have indicated interesting differences between ethnical groups.

To read the full review, click here.

TREAT-NMD's 5th International Conference 2017
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We would like to thank all of our sponsors and partners for their support for this years' conference, which is taking place between the 27 - 29th November in the beautiful city of Freiburg.

There are only a limited number of sponsorship packages remaining - to secure your package or to find out more please visit our sponsorship page or contact Anne Oyewole.

UK Myotonic Dystrophy Patient Registry: Use of Data in
Recent Publications
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The UK Myotonic Dystrophy Patient Registry has been used as a tool to conduct research for two recently published academic papers.

The registry curation team has produced summaries of these papers that highlight key aspects of both, which you can find below:

Please contact Phillip Cammish if you have any questions or to find out more about the UK Myotonic Dystrophy Patient Registry click on the link.

Imaging in Neuromuscular Disease Conference
Registration Open Now Until 1st September
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As preparations continue for the inaugural Imaging in Neuromuscular Disease Conference in Berlin from 19th – 21st November 2017, registration remains open until the 1st September.

Prof Volker Straub, Chair of the Programme Committee stated that “This is the first international conference on muscle imaging, and the speakers are world leading experts in this field. The Langenbeck-Virchow-Haus is a fantastic location in a great city. The conference will bring together academics, patient organisations and industry representatives and offers a unique opportunity to network with partners on key issues and challenges around all aspects of muscle imaging. We are also very pleased to have received more than 80 abstracts for the conference and a review of the abstracts is currently underway. Of these, 16 will be selected for oral presentations during the conference. We encourage all those with an interest in muscle imaging to attend”.

The conference program will feature internationally-recognized keynote speakers highlighting developments and advances in all aspects of muscle imaging. At least 200 participants from the neuromuscular field are expected to attend. Key note speakers include: Andrew Blamire, Carsten Bonnemann, Pierre Carlier, Bruce Damon, Kieren Hollingsworth, Hermien Kan, Richard Lerski, Martin Meyerspeer, George Radda, Fritz Schick, Volker Straub, Gustav Strijkers, Giorgio Tasca, Krista Vandenborne and Felix Wehrli. Please see the programme here.

Fees range from €250 for academics/PhD students to €450 for Industry participants. The registration fee will cover all costs associated with the meeting including the provision of conference material, coffee breaks, lunches, poster sessions, the welcome reception and the conference dinner.

Please register here.

To discuss sponsorship opportunities and/or to receive a Sponsorship Brochure for this conference, please contact olav.veldhuizen@ncl.ac.uk or helen.sutherland@ncl.ac.uk.

Action Duchenne’s 15th Annual International Conference
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Action Duchenne was founded in 2001 as the first charity dedicated solely to finding a cure for, and improving the lives of, all living with Duchenne Muscular Dystrophy (DMD).

Action Duchenne’s 15th Annual International Conference is the pre-eminent DMD event in Europe. The event attracts Duchenne families, clinicians, therapists, researchers and pharmaceutical companies.

10-12th November 2017, Birmingham Hilton Metropole

For academics and clinicians, this conference provides the opportunity to network, discuss the latest findings in research and share expertise in optimal standards of care.

This year Action Duchenne will be hosting a pre-clinical day on new horizons in Duchenne and Becker Muscular Dystrophy research, on the first day of the conference (Friday 10th November). As part of this new and exciting addition to the conference, we are inviting submissions for abstract and poster presentations across the spectrum of allied healthcare professionals in the following domains:

  • Novel therapeutics
  • Repurposed therapeutics
  • New outcome measures
  • Novel biomarker/diagnostic advances
  • Current and new trends in natural history data
  • Parent and patient reported outcome findings
  • New advances in international standards of care for D/BMD

All abstracts and posters will be reviewed by a research committee and the top three of each will receive prizes and invited to present at the Action Duchenne Conference on the 10 November. If you are working in the above areas and wish to submit an abstract and poster, please submit a summary (deadline 18th July) to Ian Clarke.

Action Duchenne believe this is a pivotal time for the Duchenne population with real progress being made in our aims of improving lives and finding a cure for DMD.  We hope you will join us.

Consultation Planned for Western Australian Rare Disease
Patient Registry Guidelines
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A survey will be available from 1 August to enable stakeholder input on the draft Western Australian Rare Disease Patient Registries: Guidelines for Establishment, Governance and Operation.

The guidelines are being developed by the Office of Population Health Genomics (OPHG), Department of Health (Western Australia). The guidelines are intended to provide assistance to those in the Western Australian health system who are involved in establishing, managing or utilizing rare disease patient registries.

As part of the development process, feedback is being sought from key stakeholders on the drafted guidelines in order to produce comprehensive guidelines that will be valuable to those with direct involvement in the establishment and operation of rare disease patient registries in Western Australia.

The survey is open to anyone with an interest in rare disease patient registries. It is anticipated that the survey will take no longer than 15 minutes to complete.

To access the draft guidelines and survey from the 1 Augustclick here.

If you have any questions, please email Population Health Genomics.

Impairment Experiences, Identity and Attitudes Towards
Genetic Screening: The Views of People with SMA
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People with genetic conditions like SMA have been under-represented in literature that explores the implication of developments in genetics – developments that are changing the capacity and scope of screening practices. This is according to a research team writing for the Journal of Genetic Counselling who surveyed and interviewed a cross-section of people with SMA ranging from severe and early onset (Type II SMA) to milder, later onset (Type III / IV SMA) on their opinions regarding screening practices. Crucially, they found that more severely affected individuals are less likely to support screening and more likely to view the condition positively than those with Type III or IV SMA. More findings, conclusions and subsequent recommendations for engaging more people with conditions in discussion of adopting screening techniques are contained within this article.

To read the full article, click here.

International GNE Myopathy Registry Newsletter (8th Edition)
Multiple Language Versions Available
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The International GNE Myopathy Disease Monitoring Program (GNEM-DMP) registry has released its eighth newsletter in a range of languages. These are now available to view online or download at the GNEM - DMP or TREAT-NMD website.

The newsletter is used as a way of providing information and updates to patients, families and doctors about the registry and other activities related to GNE Myopathy.

Available Languages: Arabic, Bulgarian, Chinese, Dutch, English, Farsi, French, German, Hebrew, Italian, Korean, Portuguese, Spanish, Turkish

This eighth issue contains the following articles:

  • Ultragenyx Patient Day 2017
  • Exercise and GNE Myopathy
  • Muscle Biopsies – What are they and why do people with GNE Myopathy undergo them
  • Living with a Neuromuscular disease and operating a personal computer
  • Vitor Pinto –My journey so far.

For more information on the GNEM-DMP Registry, please click here or email GNEM@treat-nmd.eu.

MRC Centre Neuromuscular Biobank Facilities
Advancing Neuromuscular Disease Research Worldwide
(New Publication)
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A new paper by Reza et al., 2017 titled 'MRC centre neuromuscular biobank (Newcastle and London): supporting and facilitating rare and neuromuscular disease research worldwide' aims to raise the awareness about the existence of the MRC Biobank UK facilities. These facilities are unique repositories, storing high-quality samples donated by patients with neuromuscular disorder that help to advance biomedical research and drug development. The national MRC Centre Biobank for Neuromuscular Diseases in Newcastle and London continues to support neuromuscular research by providing researchers with high quality, rare disease samples which facilitate natural history studies, clinical trials and the development of potential therapeutic treatments for neuromuscular and other rare diseases.

To read the full article, please click here.

International Scientific Congress on SMA
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SMA Europe are pleased to announce their upcoming International Scientific Congress on Spinal Muscular Atrophy (SMA), which will be held at the Jagiellonian University in Krakow, between the 25-27th January 2018. The conference welcomes researchers and doctors from across the world to discuss significant progressions in research into SMA. With new clinical trials emerging, innovative new therapies and care forms, the conference aims to bring together experts in this emerging discipline to discuss new developments.

The abstract submission deadline is the 27th October. For more information on abstract submissions, please contact abstracts@sma-europe.eu.

For more information and to register, click here.

A Comparative Study of Care Practices for Young Boys
with DMD Between Japan and European Countries:
Implications of Early Diagnosis
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Early diagnosis of Duchenne Muscular Dystrophy (DMD) is widely advocated to initiate proactive interventions and genetic counselling. However, little is known about care practices and their impact on young DMD boys and families after receiving an early diagnosis.

CARE-NMD survey was conducted between 2011 and 2012 in 7 European countries and Japan. Care practice among 64 DMD boys (aged < 5 years and diagnosed at ≤ 2 years old) in 6 countries (Japan, United Kingdom, Germany, Hungary, Poland, and Czech Republic) was analyzed.

In this study, the early diagnosis was frequently achieved by creatine kinase and genetic testing. While early diagnosis seemed to ensure early access to a specialized clinic, it did not generally result in higher satisfaction among the families, and country-specific differences were observed. Psychosocial support was perceived as insufficient in most countries.

This study provides some evidence that there are still a lot of issues to be addressed to optimize the early diagnosis of DMD from the perspective of families.

To read the full article click here.

TREAT-NMD Summer Break
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This is our final newsletter before we take our traditional summer break and we would like to take this opportunity to thank everyone who has been involved with the newsletter throughout the last year.

We will return to your inboxes once again later on in September with news and information from the neuromuscular field. If you have any news or information that you would like to be considered for inclusion in forthcoming newsletters, you can always submit your article here. Don't forget you can always find out what we're up to by following us on Twitter.

We hope that those of you with vacations coming up have a great break and we look forward to contacting you all again in September.


Events and Meetings
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Zebrafish Disease Models Conference

5 - 8 August

San Diego, USA

Over 400 scientists, professors, researchers, students will be in attendance at the Zebrafish Disease Models Conference designed to promote the study, research and use of Zebrafish Disease Models throughout the world.

The conference hopes to promote diversity among the Zebrafish community, as well as create public awareness. The conference will act as a meeting point for academic, clinical and industrial scientists using Zebrafish Disease Models.

If you are interested in this event, please contact Lisa Cormier.


International Myotonic Dystrophy Consortium Meeting

5 - 9 September

San Francisco, USA

Starting with vision and forward thinking by Dr Tetsuo Ashizawa, The International Dystrophia Myotonica Consortia (IDMC) has grown through the years by hosting biennial international meetings. The conference will take place at the San Francisco War Memorial, some events will take place at the Hyatt Regency Hotel.

The IDMC represents a 'meeting place' or 'commons' of the international myotonic dystrophy research community. It is made up of scientists, physicians, and health care professionals whose common aim is to help those afflicted with disease, whether through improved patient care, focused clinical and scientific research, or development of meaningful treatments that one day may turn the tide against the course of this disease.

To register for this event click here.


The Myotonic Dystrophy Foundation Annual Conference
8 - 9 September

San Francisco, USA

The Myotonic Dystrophy Foundation (MDF) Annual Conference will take place at the Hyatt Regency Hotel.

This year's conference program will include a host of sessions exploring research, drug development and disease management, and provide formal and informal community networking opportunities.

For the first time since 2011, the International Myotonic Dystrophy Consortium biennial DM research meeting (IDMC-11) and the MDF Annual Conference will be jointly presented. This unique opportunity will bring together the global community of DM researchers, clinicians and families via an exciting array of joint sessions during the 2017 MDF Annual Conference.

For more information on the event, please contact Paul Formaker via email or on 4158727924.


Symposium on Neuromuscular Diseases

29 September

Ljubljana, Slovenia

The Symposium on Neuromuscular Diseases (NMD) will take place at the Grand Hotel Union. The event will include professors such as Professor Mercuri, Professor Fauroux and Professor Brierley.

The event is specifically targeting new advances in treatment of NMD, neurological and pulmological complications and ethical issues related to NMD. The Symposium will focus particularly on children with NMD and is intended for those taking care of NMD patients; individuals who are training and those with years of experience are all welcome.

For more information about the symposium, including how to register, please click here or contact Damjan Osredkar.

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28th July 2017
TREAT-NMD newsletter - 28th July 2017