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19th December 2018
Chair's Review of 2018

Dear Readers,

As 2018 draws to a close I would like to take this opportunity to thank all TREAT-NMD members who have contributed to the success of the network. 2019 promises to be a challenging, yet exciting year and we will count on your active involvement! We will only succeed as a network if we continue to engage with patient representatives, clinicians, researchers and others in an active collaboration. I am delighted and honoured to work with you.

As this is the last Newsletter of 2018, it gives us a good opportunity to review the year, and look at some of our highlights, as well as look forward to 2019.

2018 has been an exciting year for TREAT-NMD with many highlights. The Universal Registries Platform (URP) is now well under development and, once completed, should streamline the process of both registry enquiries and postmarketing surveillance. The TREAT-NMD Enterprise is in the process of being established as a legal entity, which will govern and own the URP for legal and data protection reasons. Peter Deans has been appointed as Chief Operating Officer of TREAT-NMD Enterprise – a Webinar will be arranged in the New Year to introduce him formally to TREAT-NMD and TGDOC members.

Our TREAT-NMD Global Registries are governed by the TREAT-NMD Global Database Oversight Committee (TGDOC). During the 2018 TGDOC Webinar on 26th November, Nathalie Goemans stepped down after 2 years of excellent leadership, and moved to the position of Outgoing Chair. Craig Campbell is now the new Chair for the next 2 years, and we have said a fond farewell to Hugh Dawkins. The process for appointing a new Chair Elect is underway, and this will be reported in the first newsletter of 2019. There will also be a new quarterly TGDOC newsletter starting next year, which will include updates on global enquiries, news about TGDOC activities, information about TGDOC members and any other news or updates relevant to registries.

Another notable development this year has been the expansion of the core dataset for our network of SMA registries. This started with a pilot project which spanned 2017 and 2018, and resulted in the final dataset which was confirmed in September 2018. Over the next 3 years we will be supporting the rest of the SMA registries in implementing the new dataset.

As is customary in an end of year review I would like to draw attention to and celebrate some of our key achievements:


In 2018, TREAT-NMD has organised eight different international meetings around the world:

  • SMA Family Guide workshop was organised to produce the first draft of the SMA family guide. The workshop was held in Newcastle in June and attended by representatives from MDUK, SMA Support UK, SMA Europe and CureSMA.
  • TGDOC SMA Dataset Pilot Curators’ Workshop to review the consolidated feedback from pilot project and agree final recommendations for the expanded dataset, held in Newcastle upon Tyne, UK in June
  • TREAT-NMD and EURO NMD Neuromuscular Summer School (Translational Summer School) delivered in Newcastle upon Tyne, UK in July
  • TREAT-NMD Advisory Committee for Therapeutics (TACT) hosted a workshop on 'understanding the drug development process for neuromuscular diseases' at the 15th International Congress on Neuromuscular Diseases (ICNMD), Vienna, Austria in July
  • Two TACT review meetings, one in Vienna, Austria in July, and one in Chicago, USA in November.
  • The first DM1 subgroup meeting was held at the Myotonic Dystrophy Foundation Annual Conference in Nashville, Tennessee in September
  • TGDOC Webinar held in November, which this year replaced the face to face meeting.
  • SMA Masterclass delivered in Rome, Italy in November

TREAT-NMD was also represented through outreach activities at the following events:

  • SMA Europe Scientific Conference (January in Krakow, Poland)
  • The 1st International Conference of the Dystrophy Annihilation Research Trust (DART) (February in Bangalore, India)
  • Duchenne Expert and Caregivers’ Masterclass (May in Madrid, Spain)
  • European Conference on Rare Diseases and Orphan Products (May in Vienna, Austria)
  • CureSMA Conference (June in Dallas, USA)
  • Parent Project Muscular Dystrophy Annual Conference (June in Arizona, USA)
  • 10th annual workshop of European Network of Paediatric Research at the European Medicines Agency (June in London, UK)
  • International Congress on Neuromuscular Diseases 2018 (July in Vienna, Austria)
  • Myotonic Dystrophy Foundation Annual Conference (September in Nashville, USA)
  • World Muscle Society Conference (October in Mendoza, Argentina)
  • Action Duchenne Conference (November in Birmingham, UK)
  • Share4Rare Webinar (December)


  • Conect for Children (c4c) is now fully up and running with activities to establish a large collaborative European network for paediatric clinical trials
  • SMA registries core dataset expansion: Pilot study, workshop, new dataset and implementation plan agreed
  • SMA module of the TREAT-NMD Universal Registries Platform in development
  • TGDOC Disease sub groups established in SMA, DMD, DM1, LGMD and Ultra-rare
  • TGDOC Membership and Voting SOP (Standard Operating Procedure) developed and approved

New committees established:

  • TGDOC Publications committee
  • TREAT-NMD Educational Committee (TEC)
  • TREAT-NMD Scientific Programme Committee (programme development for the TREAT-NMD Conference 2019


The following resources have also been updated/created in the last year:

  • Myotonic Dystrophy (DM1) Standards of Care
  • Update of the Standard of Care Recommendations for SMA
  • New DMD Family Guides
  • Volunteers translated the SMA & DMD Family Guides
  • Family Guides for Share4Rare Platform
  • Standards of care for Congenital Myopathy
  • New Global FKRP Patient Registry Newsletter
  • TGDOC is relaunching its quarterly newsletter. The first issue will be published at the end of January 2019 and will be a report on the latest TGDOC activities and registries related news items

We have been very successful in being involved in grants from a number of different funders, for example Conect for Children (c4c), and the European Joint Programme (EJP) where TREAT-NMD resources are involved, as well as a number of Educational Grants and Research Collaborations with different companies. We have undertaken one registry enquiry this year; a Patient Feasibility enquiry with CTSR for DMD, covering 13 countries. There are nine more enquiries in the pipeline which have been on hold pending the development of the TGDOC SOP, so we expect a busy 2019.

The TREAT-NMD Advisory Committee for Therapeutics (TACT) would like to warmly welcome Annamaria de Luca who has now taken over as TACT Chair from Kathryn Wagner. There have been two TACT review meetings in 2018, one in Vienna, Austria in July, and one in Chicago, USA in November. Seven applications were reviewed in all, 4 in Duchenne, 1 in Pompe, 1 in congenital muscular dystrophy and 1 in facioscapulohumeral muscular dystrophy. The committee also welcomed new reviewers to the panel including patients and patient representatives and expertise from Japan. The next review meeting will be held in Glasgow, UK between 12th-13th April 2019 and TACT will review up to four applications. Summaries of the applications can be viewed on the TREAT-NMD website.

Our website continues to be one of our major portals of communication and we now have over 1,700 twitter followers! In the last year, the website attracted around 246,500 views from 64,500 different visitors in 178 different countries. Almost 85% were new visitors to the website. There were notable increases in site traffic from both China, with a 44% increase and India, with a 39% increase in new users. We are in the process of developing a new website which will has been designed to meet our current needs whilst providing a flexible system that can adapt to future requirements and trends as they arise. We will also take this opportunity to change the domain for the website from treat-nmd.eu to treat-nmd.org which we believe better reflects the growing global nature of the network.

Save the Date

TREAT-NMD have the following conferences to look forward to in 2019 – please save the date and look out for further information in upcoming newsletters:

  • TREAT-NMD conference, Leiden, 9th-11th December 2019
  • TREAT-NMD Masterclass in Duchenne Muscular Dystrophy, Leiden, 16th and 17th May 2019
  • 12th UK Neuromuscular Translational Research Conference, Newcastle, 4th-5th April 2019
  • TACT review meeting, Glasgow, UK, 12th-13th April 2019
  • TACT review meeting, location tbc, 2nd-3rd November 2019
  • SMA Masterclass 2019 (date and location tbc)

Thank you!

I will also take this opportunity to thank the past and present members of the Executive Committee with special thanks to Kevin Flanigan as outgoing chair of the committee. 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 again 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.
Prof Dr Janbernd Kirschner

Rare Disease Day 2019 theme announced
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Rare Disease Day is an annual event on the last day of February to raise awareness for rare diseases amongst the general public, healthcare professionals and decision-makers in order to address the needs of those living with rare diseases.

In 2019, the theme will be "Bridging health and social care". This special day will focus on bridging the gap between medical, social and support services in order to tackle the challenges encountered by people living with rare diseases and their families.

If you would like to highlight any rare disease day events which you are organising or attending please contact Hannah Murray, TREAT-NMD Communications Coordinator.

For more information on Rare Disease Day, please click here

TREAT-NMD Masterclass in Spinal Muscular Atrophy
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TREAT-NMD hosted its inaugural two day masterclass in spinal muscular atrophy (SMA) on the 19 - 20th November in Rome, Italy. The purpose of the masterclass was to provide a high-quality scientific and educational meeting for paediatric/adult neurologists and other allied health care professionals who are involved in the diagnosis and management of people with SMA.

The masterclass was oversubscribed and brought together 64 delegates from 21 countries including representatives from patient organisations and industry.

The masterclass began with a presentation from Ms Laёtitia Ouillade (SMA Europe) who gave an open and honest account of her experience of living with SMA. Additional presentations were given by multiple clinical/academic experts who provided updated information on the most recent research in SMA diagnosis and pathophysiology, standards of care (with focus on nutrition, respiratory and physiotherapy) and current treatment options. The masterclass format included generous time for discussion and an interactive workshop to allow knowledge exchange regarding the regional differences in accessing therapeutics and implementing care. Professor Nathalie Goemans closed the two day meeting with a reminder of the great developments the community has achieved and called for health care providers to remain objective and honest with their patients as we move forward into new exciting times for people with spinal muscular atrophy.

We would like to thank everyone who attended for their contributions to discussion, great questions and general enthusiasm. The feedback has been excellent and will also be extremely valuable when we begin developing the programme for the second SMA masterclass planned for 2019. If you are interested in attending the 2019 SMA Masterclass please look for details in the next TREAT-NMD Newsletters.

Dr Alex Murphy from SMA UK who was one of the speakers at the masterclass has written a short summary it can be found on the SMA UK website here.

TREAT-NMD received an unrestricted educational grant from Biogen and AveXis and sponsorship from Roche and Cytokinetics for the organisation of this meeting. The masterclass was organised by TREAT-NMD with SMA Europe as co-collaborators.

Muscle-Bone Interaction in Duchenne Muscular Dystrophy Symposium: Implementing Standards of Care and Developing Clinical Research
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Date: Friday, 21st June 2019
Location: St Virgil Conference Centre, Salzburg, Austria

This symposium, organised by the University of Glasgow and Newcastle University with support from Duchenne Parent Project Nl and Parent Project Muscular Dystrophy, is a scientific educational forum as a follow-up initiative of the recent European Neuromuscular Centre workshop on developing osteoporosis clinical trials in DMD (June 2018). The symposium will focus on the main aspects:

1- Update on muscle and bone as endocrine organs
2- Extent of osteoporosis in DMD and implementation of the updated bone & endocrine international standards of care (2018)
3- New bone therapeutic agents in DMD and glucocorticoid-induced osteoporosis
4- Investigative agents in DMD trials and impact on skeletal development
5- The path forward to gathering evidence of bone protective therapy in DMD

Further details of this symposium are available on the website http://www.gla.ac.uk/mmbone-dmd2019 or email jarod.wong@glasgow.ac.uk.

Registration will open by end of December 2018. We strongly encourage paediatric and adult neurologists, neuromuscular specialists, endocrinologists and clinicians with an interest for bone health to attend this symposium to participate in discussions relating to gathering evidence, developing research and shaping clinical care.

This symposium has been adopted as a satellite symposium to the International Conference for Children’s Bone Health held in Salzburg, 22nd-25th June 2019, www.iccbh.org

TGDOC Registries Review and Newsletter
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Registries Review

We reported in October that the Secretariat would be completing a review of the TGDOC Registries. The TREAT-NMD website has a wealth of information and resources which are important for those within the NMD community, and it is imperative that this information is kept up to date.

One area which requires constant updatingis the list of NMD related patient registries. A patient registry collects information about patients who are affected by a particular condition, in this case NMD related diseases. The TREAT-NMD website is the first step point of contact for patients and researchers alike when looking for specific information on to contact a registry and this task becomes more difficult if the contact details are incorrect. Curators of TGDOC registries are therefore encouraged to inform TREAT-NMD of any changes to their contact details. If you have not heard from TREAT-NMD regarding your registry for a while, please contact us, as it is likely your details need to be updated.

Also, to compliment this, the Secretariat will be conducting an Annual Registries Review. The purpose of the review is to give us more accurate information about your registry, so we can promote this to our collaborators.

The Review will take the form of an online questionnaire which will be used to collect information such as contact details, total number of patients, ethical approvals, and dataset compliance. Each curator (or other primary registry contact) was contacted in November with an invitation to complete the questionnaire. However, if you are a TGDOC Registry Curator and you have not received an invitation please get in contact with Hannah Murray as soon as possible.

TGDOC Newsletter

If you would like to subscribe to the TGDOC Quarterly Newsletter, which will be launching in January 2019, please complete the form via the link.

Second International Conference on Imaging in Neuromuscular Disease 2019
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The Second International Conference on Imaging in Neuromuscular Disease will be held at the Langenbeck-Virchow-Haus (http://www.langenbeck-virchow-haus.de/) in Berlin from 17th to 19th November 2019.

The conference will feature internationally recognized speakers including Pierre Carlier,

Andrew Blamire, Pierre Yves Baudin, Julien Valette, Daniel Ennis, Olivier Scheidegger, Bram van Ginneken, Jennifer Kollmer and Peter Caravan. The programme will include sessions on the relevance of MRI in clinical development, diffusion imaging, imaging cardiac muscle, deep learning and MR neurography.

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.

Registration for this conference will open soon. We look forward to welcoming you to Berlin in November 2019.

For sponsorship opportunities please contact Helen Sutherland: helen.sutherland@newcastle.ac.uk

The Italian Neuromuscular Registry
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In Europe and worldwide, the landscape of patient registries in the neuromuscular disease field has changed during the last 10 years. In Italy, several patient organisations and Fondazione Telethon undertook the development of a TREAT-NMD linked patient registry in 2009. An article published in the Orphanet Journal of Rare Diseases reviews the implementation of this joint effort and the experience gained. Overall, the article applauded the effort, highlighting the level of patient involvement while also engaging the expert clinicians of the Italian network in the collection of data according to the best clinical practices.

The PubMed abstract can be found here Orphanet J Rare Dis. 2018 Oct 4:13(1):176

Journal of Neuromuscular Diseases - Newsletter
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The Journal of Neuromuscular Diseases aims to facilitate progress in understanding the molecular genetics/correlates, pathogenesis, pharmacology, diagnosis and treatment of acquired and genetic neuromuscular diseases (including muscular dystrophy, myasthenia gravis, spinal muscular atrophy, neuropathies, myopathies, myotonias and myositis).

The journal publishes research reports, reviews, short communications and letters-to-the-editor and will consider research that has negative findings. The journal is dedicated to providing an open forum for original research in basic science, translational and clinical research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.

To find more information on the journal, or to subscribe to the JND Newsletter, you can do so via the JND website.

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Both TREAT-NMD organised events, and those organised by external parties, will be listed below.


Advances in Skeletal Muscle Biology in Health and Disease

6th - 8th March 2019

University of Florida, USA

This conference is well suited for informal interactions and the presentation of data that might be too preliminary for a larger audience. Overall, the goal is to facilitate advances in skeletal muscle biology through discussions that promote new ideas, research lines and collaborations.

Early Bird Discount Registration is currently available for the 2019 conference held at the University of Florida.

The deadline for abstracts to be considered for oral presentation is January 10, 2019. All other abstracts are due 28th January 2019.

For more information, please click here


AFM - Telethon Scientific Congress in Myology

25th - 28th March 2019

Bordeaux, France

AFM-Téléthon is pleased to announce that their scientific congress in Myology will take place between 25th-28th March 2019. The congress will take place in Bordeaux, France.

More than ever, therapeutic innovation will be at the heart of this event in all its aspects: gene therapy, pharmacogenomics, gene surgery and others.

The successful research conducted in nerve and muscle physiology, and in neuromuscular disorders in general, as well as the multiplication of clinical trials involving hundreds of patients worldwide are now bearing fruit. The first effective treatments are now available for patients, and ongoing trials are more than ever synonym of hope and victories to come. We know it, a new era is opening up for our diseases that were regarded as incurable until recently, and MYOLOGY 2019 will reflect this change of paradigm for sure.

For more information, please click here


11th Annual Neuromuscular Translational Research Conference

4th- 5th April 2019

Newcastle, UK

The MRC Centre for Neuromuscular Diseases is pleased to announce the 11th Annual Neuromuscular Translational Research Conference will take place from 4th - 5th April 2019 at the International Centre for Life in Newcastle upon Tyne.

Abstracts must be emailed to cnmd.contact@ucl.ac.uk by Tuesday 8th January 2019 at 5pm. No extensions and the abstract submission guidance should be followed.

For more information on registration, the conference programme and abstract submission please click here

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Past newsletters
19th December 2018
TREAT-NMD Newsletter - 19th December 2018
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