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20th December 2016
EURO-NMD approved

TREAT-NMD is delighted to announce that the Neuromuscular European Reference Network (EURO-NMD) has passed the final step of the evaluation process and was approved by the Board of Member States.

European Reference Networks (ERN) create a clear governance structure for knowledge sharing and care coordination across the EU to improve access to diagnosis and treatment, as well as the provision of high-quality healthcare for patients. They are networks of centres of expertise and healthcare providers that are organised across borders. We will all enjoy working together under the roof of the European Reference Network for Rare Neuromuscular Diseases, EURO-NMD from 2017.

Find out more here or click 'more' below to access the announcement on the EU Commission website.

Chairs' Review of 2016
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Dear Readers,

As is customary at the end of the year, we look back at our achievements. Once again TREAT-NMD has had a successful year with many highlights.  We have now implemented our 3 year work plan which is overseen by the Executive Committee We are making fantastic progress in some disease areas, however we need to improve our efforts in other areas. Some tasks are overarching for all NMDs, whilst others are disease specific and sometimes there is coordinated work ongoing in one disease that could help facilitate similar efforts in other diseases. It’s not too late to come forward and volunteer to help- for information contact Becca Leary.

Our website continues to be one of our major portals of communication and in September we welcomed our 1000th twitter follower! In the last year, the website attracted almost 270,000 views from over 67,000 different visitors. Notable shift in site traffic came from Taiwan with 1,248 page hits this year generating more than a 200% increase on the previous. Most traffic came from the USA, European member states, India, Canada, Australia and Japan. The current version of our website is over 6 years old and we have started developing a new website. Given the size and complexity of our current site we’re sure you can appreciate this is no small task that can be undertaken lightly. We feel now is the right time to create something that will not only be more appropriate for today’s technology, but will allow us to work more efficiently and effective in the years to come. Inevitably there will be a number of changes and a period of adjustment as we transition from one site to the other. Please look out for announcements in our newsletters, as we will keep you informed of our progress.

We have steadily increased the variety and number of languages that our information is available in.  The Duchenne Muscular Dystrophy (DMD) family guide is available in 34 languages on the website, the latest version being in Arabic and the online guide is available in 15 languages with Hebrew and Chinese the latest additions. The Spinal Muscular Atrophy (SMA) care guide for families and their doctors is now available in 19 languages with Slovenian being the latest translation. DMD Research Overview contains a succinct overview of therapeutic approaches that are in clinical development for DMD, written in everyday language and are now also available in Dutch and Danish.

During 2016, TREAT-NMD has been able to provide a broad range of support to Pharmaceutical companies, to assist them with post marketing surveillance activities, including strategic and operation input, development of training workshops and communication strategies. To find out more about our complete post marketing surveillance service and our current work on the development of a Duchenne Muscular Dystrophy-specific post marketing surveillance platform, please contact Anne Oyewole

Four TREAT-NMD resources (TREAT-NMD Advisory Committee for Therapeutics (TACT) and The Care and Trial Sites Registry (CTSR), Standard Operating Procedures for preclinical efficacy studies and TREAT-NMD Patient Registries achieved IRDiRC recommended status during 2016. TREAT-NMD organized and facilitated a number of meetings and training events, such as the DMD masterclass and the TGDOC members and curators meeting. SMA Europe, TREAT-NMD, and the European Medicines Agency (EMA) co-organised a successful one-day workshop on SMA. The workshop brought together key stakeholders (patient representatives, academics, industry and regulators) to discuss, help and advance the development of therapies for the treatment of SMA.

Looking forward, 2017 will represent a significant milestone; 10 years of TREAT-NMD! We will be celebrating the past and exploring the future of TREAT-NMD at our conference next year. Please join us in Freiburg on the 27th-29th November. I will also take this opportunity to thank the previous chair Annemieke for her contribution during 2016 as well as the rest of the Executive Committee members. I would also like to thank the Secretariat in Newcastle for their work in supporting the Executive, TACT and TGDOC committees. Finally, I also want to thank all of you for being part of TREAT-NMD and want to stress that you can be involved in many ways. There is a lot of work still to be done and we need your help to prepare the neuromuscular field for the future.

Wishing you all a wonderful Christmas and a Happy New Year.

On behalf of Kevin Flanigan


Annual review from TACT
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TREAT-NMD has continued to play a vital and direct role in the development of therapies for neuromuscular disease through TACT review meetings. During 2016, these were generously supported by financial donations from patient organisations - PPMD, MDUK and MDA and by requested donations from applicants.

The TREAT-NMD Advisory Committee on Therapeutics met in Barcelona in April and Miami in October and reviewed 6 applications: 3 in Duchenne muscular dystrophy, 1 in Becker, 1 in congenital myotonic dystrophy and 1 in myotubular myopathy. The feedback to applicants has been of great value in shaping their development programmes:

“We found the TACT report to be concise and well-organized.  The committee put together a very thoughtful review and we intend to use the recommendations to augment our development plan.” Dr Ramsdell, Valerion Therapeutics, LLC

During 2016, the committee was delighted to agree that TACT’s coverage should be extended to therapy development within amyotrophic lateral sclerosis (ALS) and we now welcome applications from this field. In 2017, meetings will be held in Edinburgh (29-30th April) and Montreal (October). Please contact Cathy Turner for details on submitting an application.

ENMC 25th Anniversary Announcement
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25th Anniversary ENMC Workshop – Special Call for Ideas

ENMC is planning to organise a patient-oriented workshop for its 25th anniversary in 2017. The aim of the workshop is to address urgent topics that impact on the broad community of people with neuromuscular conditions.

This unique workshop will take place in autumn 2017 and will allow for an (exceptional) maximum number of 30 participants.

In order to select the best ideas and work closely with applicants to set up the final program of the workshop, ENMC calls for WORKSHOP PROPOSALS.

Eligibility criteria:

- The workshop has to target a relevant patient question.

- The topic should relate to quality of life for people with neuromuscular conditions (including, but not limited to, transition to adulthood, nutritional aspects, genetic counselling, patient reported outcomes..), covering more than one condition. Topics directly addressing fundamental research or disease-specific clinical trial readiness are not admitted.

- Applicants can be either clinical scientists or representatives of Patient Organizations. Proposals that derive from a conjunct effort will be particularly appreciated and are encouraged.

For further information on how to apply please click here

A task force of the ENMC Executive Committee, together with the Director of its Scientific Committee will examine the proposals received and contact the applicants whose ideas have been selected, to develop together the full program.

The final program may derive from the merging of suggestions included in different proposals.

Please send your proposal by January 15th.

EURORDIS Summer school seeks researcher applications
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EURORDIS will organize another Summer School, ExPRESS 2017 (Expert Patients and Researchers EURORDIS Summer School) from June 5-9 2017 in Barcelona, Spain.

This Summer School teaches about drug development, the regulatory process and drug access. Faculty consists of expert patient representatives, researchers and representatives from the European Medicines Agency. The Summer School is open for both patient representatives and researchers.

Researchers working within drug development have attended the summer school in previous years and were very enthusiastic throughout the whole course. This was due to the remarkable atmosphere as well as having the opportunity to learn side by side with patient experts.

This Summer School is highly recommended for those looking to expand their knowledge within the drug development field and get an insight on the views of experts.

If you would like to attend ExPRESS 2017, please contact the EURORDIS Training Manager who will send you an application form.

The deadline for applications for researchers has been extended to January 10 2017. Only complete applications will be considered. You are encouraged to send in your completed application at your earliest convenience.

Medication adherence in patients with myotonic dystrophy
and facioscapulohumeral muscular dystrophy
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Medication adherence in patients with myotonic dystrophy and facioscapulohumeral muscular dystrophy.

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations.

Higher levels of medication adherence lead to better health outcomes, especially important to patients with DM and FSHD because of their multisystem manifestations and complexity of care. However, medication adherence has not previously been studied in a large cohort of DM type 1 (DM1), DM type 2 (DM2), and FSHD patients. The purpose of our study was to survey medication adherence and disease manifestations in patients enrolled in the NIH-supported National DM and FSHD Registry.

The study was completed by 110 DM1, 49 DM2, and 193 FSHD patients. Notable comorbidities were hypertension in FSHD (44 %) and DM2 (37 %), gastroesophageal reflux disease in DM1 (24 %) and DM2 (31 %) and arrhythmias (29 %) and thyroid disease (20 %) in DM1.

Each group reported high levels of adherence based on regimen complexity, medication costs, health literacy, side effect profile, and their beliefs about treatment. Only dysphagia in DM1 was reported to significantly impact medication adherence.

Approximately 35 % of study patients reported polypharmacy (taking 6 or more medications). Of the patients with polypharmacy, the DM1 cohort was significantly younger (mean 55.0 years) compared to DM2 (59.0 years) and FSHD (63.2 years), and had shorter disease duration (mean 26 years) compared to FSHD (26.8 years) and DM2 (34.8 years).

Future research is needed to assess techniques to ease pill swallowing in DM1 and to monitor polypharmacy and potential drug interactions in DM and FSHD.

You can access the full article here.

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10th Annual Neuromuscular Translational Research Conference

22 - 23 March 2017 ICH,

Guildford Street, London UK.

Our full and diverse programme will include: Neuropathies / Genomic Therapies / Mitochondrial Disease / NIHR rare diseases TRCSpeakers will include: Prof Linda Greensmith UCL ION / Dr James Bilsland ARUK UCL / Dr Majid Hafezparast, Univ. of Sussex / Prof Brunhild Wirth, Institute of Human Genetics, Cologne / Prof Carsten Bonneman, National Institute of Neurological Disorders and Stroke, USA / Dr Richard Finkel, Philadelphia Children's Hospital / Professor James E Rothman, UCL and Yale / Dr Michael Minczuk, MRC MBU, Cambridge / Professor Carlos Moraes, University of Miami / Dr Saskia Koene, Radboud University, Netherlands / Professor R Cohn, Hospital for Sick Children, Toronto.

The Global Orphan Drug Conference And Expo

19 - 21 April

Washington, DC .

At the World Orphan Drug Congress USA in April 2017, we are bringing together more than 150 elite speakers to educate and inspire our 1,000 attendees from big pharma, biotech, payers, patient groups, academics and government bodies. In 2017, World Orphan Drug Congress USA is bringing together the worlds of Scientific Innovation and Commercialization, with 2 tracks in the main conference. By exploring trends in Digital Health, Biosimilars, Gene Therapy, and more, we will uncover the next scientific breakthrough. Examinations of Mergers, Commercialization, Marketing and the Regional Markets will provide insight into this billion-dollar business. That's not all with Rare Disease Advocacy World and Pitch and Partner 2017, there are 4 tracks of content for you and your team to enjoy.

European Cross-Sectional Survey of Current Care
Practices for Duchenne Muscular Dystrophy Reveals
Regional and Age-Dependent Differences
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European Cross-Sectional Survey of Current Care Practices for Duchenne Muscular Dystrophy Reveals Regional and Age-Dependent Differences

The publication of standardised care guidelines in 2010 was an important step towards improving DMD patient care. These guidelines were reproduced as “family guides” which are now translated into 37 languages; distributed to patients and health care providers via patient organisations, the TREAT-NMD network, and patient registries.

The researchers set out to survey the extent to which these guidelines have been incorporated into clinical practice across European countries in both Eastern and Western regions.Healthcare research in rare diseases is challenging, with patient registries often the only resource identifying patients with a given disease. The objective of the EU-financed CARE-NMD project was to evaluate current care and quality of life in DMD patients in Europe.

The CARE-NMD survey investigates the neuromuscular, medical, and psychosocial care of DMD patients in Europe, and compares it to the guidelines. A cross-sectional survey was carried out of 1677 patients who were contacted via the TREAT-NMD patient registries and was conducted using self-report questionnaires in seven European countries. The survey respondents were 861 children and 21 adults.

Data describe a European DMD population with mean age of 13.0 years (range 0.8–46.2) of whom 53% had lost ambulation (at 10.3 years of age, median). Corticosteroid medication raised the median age for ambulatory loss from 10.1 years in patients never medicated to 11.4 years in patients who received steroids (p < 0.0001). The majority of patients reported receiving care in line with guidelines, although we identified significant differences between countries and important shortcomings in prevention and treatment.

Summarised, 35% of patients aged≥ nine years received no corticosteroid medication, 24% of all patients received no regular physiotherapy, echocardiograms were not performed regularly in 22% of patients, pulmonary function was not regularly assessed in 71% of non-ambulatory patients. Patients with regular follow-up by neuromuscular specialists were more likely to receive care according to guidelines, were better satisfied, and experienced shorter unplanned hospitalization periods.

The fill article can be accessed here.

TREAT-NMD Outcome Measures workshop
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TREAT-NMD, Duchenne UK, PPMD and Dutch Parent Project are jointly organising a much needed 2-day workshop on 'Qualification of meaningful outcome measures for Duchenne muscular dystrophy’. This will be held in London at The Foundry, Vauxhall on 30-31st January 2017.

Input and feedback from industry and regulators is essential. TREAT-NMD is therefore inviting representatives from pharma (particularly those currently working in Phase II clinical trials for DMD) and from regulators to attend on 31st January (Day 2).

Day 1: around 25 pre-invited participants - clinicians and physios involved in developing and using outcome measures in natural history and interventional studies - will meet. Together with representatives from advocacy groups, they will have a detailed and focussed discussion on where we currently stand, what we have learned about outcome measures and on what messages and issues we want to discuss with industry and regulators. This will be chaired by Professors Volker Straub and Eugenio Mercuri.

Day 2: results from Day 1 will be presented and discussed with a wider group. This may include a proposed roadmap. We will listen to advice and suggestions generated during this second day and agree together on critical next steps in order to move forward to the actions needed to achieve outcome measure qualification.

I do hope that you find this proposal interesting and important. If you are able to attend and take part on 31st January, we would be delighted to have you there to give your input and listen to discussions. Please register your attendance using this link

There is no charge to attend and lunch will be provided. The workshop is organised and co-funded by Duchenne-UK, Dutch Parent Project, Parent Project Muscular Dystrophy and TREAT-NMD.

Note that, due to limited spaces (approximately 80 attendees), we ask that no more than 2 representatives from each organisation register. In the event that we are oversubscribed, the organisers will select attendees in order to achieve a broad representation from across the field.

GNEM-DMP Newsletter - 6th Edition Now Available
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The International GNE Myopathy Disease Monitoring Program (GNEM-DMP) registry has released its sixth newsletter and it is available to download now.

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 containing updates from the study partner on anything else related to GNE Myopathy.

The sixth edition of the GNEM-DMP Newsletter is now available online. Highlights of this edition include:

• NDF's Annual GNE myopathy (HIBM) Symposium – Feedback

• GNE myopathy Patient Advocacy Summit – Feedback

• The History of GNE myopathy - A Timeline of Key Events

• Ultragenyx Announcement:  Withdrawal of Marketing Authorization Application for Aceneuramic Acid Prolonged Release (Ace-ER) in the EU

• Food Choices and Good Health

• Participant Story: ‘My Journey So Far’ – Rushabh Desai

This newsletter will soon be available in a range of different languages - please email to request a copy of the newsletter in a language of your choice (if available).  For more information on the GNEM-DMP Registry please visit or email

Video from TREAT-NMD SMA workshop now available
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On 11 November 2016 the European Medicines Agency (EMA), SMA Europe and the TREAT-NMD network held a one-day workshop to discuss, support and advance the development of therapies for the treatment of spinal muscular atrophy (SMA). The workshop took place at the EMA in London.

The workshop brought together key stakeholders from Europe and USA – patients, doctors, industry representatives, researchers and regulators, to discuss the latest scientific developments in the area of SMA and ways of developing therapies for the treatment of SMA. The programme for the day was divided into three sessions that covered a number of topics including:

  • An overview of the disease
  • The pharmacology of the molecules under investigation
  • Natural history data
  • Clinical outcome measures
  • Potential use of biomarkers in drug development

The videos of the SMA meeting are now available on the EMA youTube channel.

Conference speakers announced for the First International
Conference on Imaging in Neuromuscular Disease -
Imaging in Neuromuscular Disease 2017!
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The First International Conference on Imaging in Neuromuscular Disease will be held at the Langenbeck-Virchow-Haus in Berlin from the 19th until the 21st November 2017.

The conference programme will feature internationally-recognized invited speakers including 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 and will highlight developments and advances in all aspects of muscle imaging with sessions on Diagnostic Muscle Imaging, New Imaging Techniques and Quantitative Muscle Imaging. Young researchers and trainees are encouraged to attend and participate. Selected abstracts will be featured for platform presentation during the sessions and all posters are eligible for poster awards.

For further programme details and details on how to register for this conference please visit the website.

We look forward to welcoming you to Berlin in November 2017. To discuss sponsorship opportunities and to receive a Sponsorship Brochure for this conference, please contact Olav Veldhuizen.

MTM Registry Newsletter
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The first bi-annual newsletter for the Myotubular and Centronuclear Myopathy Patient Registry is now available online. It is intended to provide patients, families, doctors and researchers with information about the registry as well as other relevant news and updates. Read the newsletter here.

DMD Family guide now available in Arabic
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The family guide for the diagnosis and management of DMD is now available to download in a number of different languages with Arabic being the latest adittion.

Translations into some languages are currently being prepared and will be made available once they are complete.

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Past newsletters
20th December 2016
TREAT-NMD Newsletter - 20th December 2016
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