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29th March 2019
TREAT-NMD 2019 Conference - Registration Now Open!

The TREAT-NMD Alliance is delighted to announce that registration for the 6th TREAT-NMD conference, taking place in Leiden, the Netherlands, from 9th – 11th December, is now open.

The aim of this international event is to share progress and lessons learned in the area of translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients.

The conference will attract over 300 delegates including academics, patients and carers, patient advocacy organisations, clinical specialists and Industry. Delegates will have the opportunity to:

  • Network with partners on key issues and challenges in neuromuscular disease
  • Engage with panels of international experts who will inform, stimulate and challenge debate.
  • Acquire the latest updates on standards of care, outcome measures, patient reviews, and new developments including addressing trial site capacity.

As with all of TREAT-NMD’s previous conferences this will be a fantastic opportunity for all of TREAT-NMD’s stakeholders, such as patients, academics, clinicians, registry curators and industry representatives, to get together to network, learn and exchange ideas about translational research.


Delegates can register via EventBrite (https://www.eventbrite.co.uk/e/treat-nmd-2019-conference-leiden-tickets-53140253930) or through the dedicated conference website (https://treat-nmd-conference.org/). More information on the conference will be published in the TREAT-NMD Newsletter (http://www.treat-nmd.eu/about/newsletters/) and via the TREAT-NMD Twitter account (https://twitter.com/TREAT_NMD) so please keep checking these channels for updates.

The registration fee for all delegates includes entry to all official conference sessions, the exhibition, the opening reception as well as coffee breaks, and lunches. It also includes the conference bag, containing the official conference materials.

Early bird registration will close on 21st July 2019.

If you have any questions about the conference please email them to Info@treat-nmd.org.

We look forward to seeing you in Leiden.

Rare Barometer Voices - New Survey
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Rare Barometer Voices is a community of people living with a rare disease who are willing to participate in EURORDIS - Rare Diseases Europe surveys and studies. A EURORDIS initiative the community aims to make the voice of rare disease patients stronger. The objective is to transform opinions and experiences about topics that directly affect rare disease patients into figures and facts that can be shared with a wider public.

Previous studies have considered topics such as access to treatment, juggling care and daily life and the rare disease patient's participation in research. A number of reports and infographics have been published detailing the results on the Rare Barometre Voices website. The new study asks for patients to share their experiences of treatments, it has been translated into 23 languages and is open until 30th April.

If you would like to learn more about Rare Barometre Voices, and participate in current and future studies, you can go to the website (https://www.eurordis.org/voices)

New Blog - How a fake medicine can be useful - Professor dr. Annemieke Aartsma-Rus
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In 2018 a TREAT-NMD newsletter survey was conducted which asked subscribers to suggest new types of articles they would like to see included in the monthly newsletter. Some subscribers suggested it would be useful to have a guest editorial or blog which discusses NMD related subjects in more depth, such as recent research or drug development. This month, Prof. dr Annemieke Aartsma-Rus shares her thoughts on the EURO-NMD European Reference Network Summer School which took place in July 2018.

I am currently inventing test results in mice for a medicine I just made up. No worries, this is not for a scientific publication, but to be used in a summerschool I am co-organizing. The aim of these fake data? To increase the awareness of our participants on how to deal with preclinical research for potential new therapies.

The TREAT-NMD EURO-ERN summerschool is organized by Newcastle University and the Leiden University Medical Center. It is aimed at clinicians and researchers working with muscle diseases. The central theme of the summerschool that took place in Newcastle in July is the development of new treatments for muscle diseases and how patients can be involved in these processes.

Why patients should be involved

Before a new medicine comes on the market, it has to be rigorously tested. Is it effective? Is it safe? For both questions the input of patients is crucial. Assessing whether a medicine is effective is more complicated than you might think. Patients with muscle diseases often have multiple symptoms. In addition to the decrease in muscle function, they can suffer from tiredness and muscle cramp. Most treatments will act on only one or a few of the symptoms. Whether this is helpful can only be answered by the patients themselves.

A famous example of how things can go wrong is a potential medicine that was developed to reduce pain for patients who had a condition that involved amongst others itchiness and pain. The compound indeed reduced the amount of pain, but the reduced pain resulted in the patients having more discomfort from the itchiness. And in fact, said the patients, the itchiness was always more of a burden than the pain. The developers of the test compound did not realize this, because they did not ask the patients about this beforehand.

Our promising fake medicine

Back to my made up drug. I need this for a mock TACT session. (TACT is the TREAT-NMD advisory committee for therapeutics, see for more information: http://www.treat-nmd.eu/resources/tact/introduction/ ). During this session participants of the summerschool assessed a very promising drug for a muscle disease. The drug is already marketed for another disease and the results in animal models are very positive. To be tested in patients immediately one would think.

But of course there is a catch – several in fact. In muscle diseases muscle is replaced by connective tissue. Our compound reduces the amount of connective tissue by 33% - this seems a lot. However, in fact the amount of connective tissue in the animal model is a lot lower than in patients and the treated animals have 2% fibrosis compared to 3% in the untreated animals. So an absolute decrease of only 1%. Furthermore, this is a first experiment and no further studies to confirm or validate the findings in another laboratory and disease model system have been performed. There are more catches but it is for the participants to discover these during their session.

Don’t rush clinical trials

Even though this example is fictitious, it is based on real examples. It is known that many compounds that have therapeutic effects in disease models fail in clinical trials. This is in part because there is a tendency to rush into clinical trials when results in model systems are promising. Rather than performing additional crucial studies to optimize the dose, the delivery route and the regimen, trials are planned based on very limited data, which risks designing suboptimal trials. Because muscle diseases are often progressive, there is a sense of urgency, because a delay can mean the irreversible loss of function. However, when trial design is suboptimal, this involves the risk of concluding that a compound is not effective, while it might have been had it been tested in a more optimal dose or dosing regimen.

TACT was set up amongst others to address this and to help companies and academic groups set up more optimal preclinical and clinical study design. While my fake drug will never be marketed and used in the clinic, hopefully it will raise awareness with the participants about this important issue."

Annemieke Aartsma-Rus

Want to sign up for the TREAT-NMD EURO-ERN summerschool? You can now register your interest now via the Euro-NMD website https://ern-euro-nmd.eu/event/translational-summer-school-2019/

If you would like to submit a blog post or editorial for publication in the newsletter, please contact Hannah.Murray@newcastle.ac.uk

Launch of new Share4Rare Online Platform
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Share4Rare is a new collective online platform, launching on 2nd April. The platform will connect rare disease patients and their families with the information and resources they need to become experts in their conditions. The interactive platform will help to break the isolation of living with a rare disease and allow learning across conditions. Being rare no longer means being alone!

The platform will create a big community of people from around the globe. It takes advantage of traditional forums with topics agreed in advance, and addresses concerns about security with established social media channels. Users will be able to filter questions to their specific needs or interests based on the information collected in each user profile. Expertise, security and advancing collective knowledge about rare diseases are the pillars of this global community.

Share4Rare will also perform several research projects through the donation of data from adult patients or parents for the pilot disease areas of rare neuromuscular diseases and rare paediatric tumours.

Share4Rare will:

  • Provide accurate and up to date scientific content for rare disease patients and their families.
  • Connect adult patients and caregivers by building communities based on an individual’s clinical data, interests and expertise.
  • Provide an opportunity for individuals to further research in their condition by providing clinical data.

Learn more about this ambitious project at https://www.share4rare.org. Stay informed about the platform launch, upcoming webinars and the latest developments in the rare disease world by following @Share4Rare on Twitter and Facebook or by email at info@share4rare.org.

New Issue of the GNE Myopathy International Patient Registry Newsletter Published
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The March edition of the GNE Myopathy International Patient Registry newletter is now available.

This month’s newsletter features details of upcoming events, funding announcements, reports from the rare disease community and the release of the GNE Myopathy Standards of Care.

The newsletter is aimed at GNE Myopathy patients who have signed up to the registry, as well as anyone else within the International GNEM community. The newsletter is published towards the end of each month, and they are always looking for new content. If you would like to submit an article for the newsletter, or if there is anything in particular that you would like to see in the newsletter, please contact lucy.imber@ncl.ac.uk

For any other queries, please contact HIBM@treat-nmd.eu

TREAT-NMD Global Database Oversight Committee Publications Committee
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The TREAT-NMD Global Database Oversight Committee (TGDOC) has recently established the TGDOC Publications Committee, chaired by Dr Rasha El Sherif.

The aim of the committee is to highlight, collect and encourage publications and academic research using TGDOC affiliated registries. The Committee will act in an advisory capacity to the TGDOC Chairs and will provide recommendations based on a majority vote.

The committee will:

  1. Collect and promote publications, which have been produced using TGDOC registries.
  2. Establish and maintain a process to ensure that the correct authors are cited for collective publications using TGDOC registries.
  3. Establish and maintain a process to monitor who is academically responsible for registry data.
  4. Review and vet abstracts for poster and presentations using TGDOC registry data.
  5. Provide assistance to those looking to carry out research using TGDOC registries and discuss their study ideas.

The committee would like to highlight that it will not review and vet abstracts for posters/presentation for individual registries, a review will only take place if a poster/presentation presents collective TGDOC registries.

The committee is keen to encourage the publication of posters/presentations/papers which utilise the data available through the global registries. If you have a query relating to publications, which you would like the Committee to review, please email your request to the TREAT-NMD Communications Coordinator, Hannah Murray.

Second International Conference on Imaging in Neuromuscular Disease 2019 Registration and abstract submission now open!
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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 new imaging applications in NMD, 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. The deadline for abstract submission is 31st May 2019.

Registration for this conference is now open and an early bird rate is available until 1st July 2019. Please visit https://conference.myo-mri.eu/ for more information.

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

This conference has been endorsed by the International Society for Magnetic Resonance in Medicine.

Best Clinical Outcome Measures for Dysferlinopathy: 1 year cohort paper published in Neurology
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A new publication was recently released summarizing the first-year analysis of the International Clinical Outcome Study for Dysferlinopathy (COS), which is a natural history study of 200 genetically confirmed patients. Dysferlinopathy is a rare form of muscular dystrophy caused by mutations in the dysferlin gene.  It is also known by the following alias’:  Limb Girdle Muscular Dystrophy type 2B (LGMD2B), LGMDR2, Miyoshi Myopathy 1(MM1).  The paper describes the best methods to use when measuring disease progression, as well as how many individuals would be needed for clinical trials for this extremely heterogeneous population.

Strong collaborations, community support, and the dedication of patients, researchers and clinicians from around the world have generated this extremely important data set from this first ever natural history study in dysferlinopathy. The paper offers a summary of details about which assessments were most effective over the shortest period of time, ways this varied population could be categorized according to their stage of progression, whether or not there is a difference in progression between the various clinical diagnoses of this disease (LGMD2B vs. MM1) and what size cohort would be needed for different types of treatments trials in order to be statistically relevant. With a prevalence as low as 8-10 per million, having published natural history data, and achieving a better understanding of disease progression is critical.

The authors and collaborators now preparing to start recruitment for a follow-up study, COS2, which aims to validate data from COS and further develop customized practices for measuring progression, especially in the non-ambulant patients.  For information about COS2 or if you have dysferlinopathy patients who may be interested in participating in COS2 contact the Jain Foundation at patients@jain-foundation.org.

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


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.

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


The Egyptian School of Neuromuscular Disorders

8th - 10th April 2019

Training and Development Center, Ain Shams University Hospital, Egypt

Organised by the Neuromuscular Unit the event, which is aimed at young neurologists, paediatricians, internists and physiotherapists, seeks to increase knowledge around the basics of neuromuscular disorders and provide an update to those within the field. A number of experts from across Europe will attend to discuss their experience and share expertise, including Professor Albert Ludolph (Ulm University, Germany), Professor Bjarne Udd (Tampere University, Finland), Professor Andoni Urtizberea (Founder of Summer School of Myology, Hendaye Hospital, France) and Professor Edoardo Malfati.

The deadline for applications is 15th March 2019. If you would like to register to attend the event, or you would like more information, please contact Professor Nagia Aly Fahm or you can go to the event webpage.


1st International Conference of the Neuromuscular Chapter of Egyptian Society of Neurology, Psychiatry and Neurosurgery (ESNPN)

11th - 12th April 2019

Renaissance Cairo Mirage City Hotel, Egypt

The conference aims to provide Egyptian Neurologists with the most up to date information related to the diagnosis and therapies of various rare neuromuscular conditions. Guest speakers from across Europe and Egypt will be in attendance to discuss their experience and share their expertise including Professor Albert Ludolph (Ulm University, Germany), Professor Bjarne Udd (Tampere University, Finland), Professor Andoni Urtizberea (Founder of Summer School of Myology, Hendaye Hospital, France) and Professor Edoardo Malfati.

The deadline for abstracts is 15th March 2019. Abstracts should be emailed to Operation2@misr2000online.net or khalid@misr2000online.net

For more information please contact Professor Nagia Aly Fahmy


TACT Meeting

12th - 13th April

Glasgow, UK

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 recognized academic and industry drug development experts as well as representatives of patient foundations and institutional governmental scientific research centers, who meet twice a year to review and provide guidance on the translation and development path of therapeutics programs in rare neuromuscular diseases with large unmet need, such as muscular dystrophies and amyotrophic lateral sclerosis (ALS).

The confidential and comprehensive review provides recommendations including go-no-go milestones and 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.


2019 MDA Clinical and Scientific Conference

13th - 17th April 2019

Orlando, Florida

The Muscular Dystrophy Association (MDA) is pleased to invite you to participate in the 2019 MDA Clinical & Scientific Conference on April 13-17, 2019, at the Hyatt Regency Orlando.

2019 will be an exciting year for MDA! We will converge our long-standing Clinical and Scientific conferences into our inaugural combined annual meeting, which will leverage MDA’s extensive reach into the scientific, clinical research, and clinical practice communities to bring together the world’s leading experts in neuromuscular disease.

As the most comprehensive neuromuscular disease meeting in the United States, it represents the full spectrum of scientific researchers, medical professionals, and decision makers. Our focus in 2019 will be to leverage the expertise of researchers, clinicians, and allied health professionals to accelerate drug development and advance best practices in care management across more than 40 neuromuscular diseases.

As an exhibitor and supporter, the 2019 Annual Meeting offers unequalled opportunities to be among other leaders in the healthcare industry to meet with and showcase your products and services to the neuromuscular disease scientific and medical community while you support MDA’s Mission – to transform the lives of individuals living with neuromuscular disease.

For more information, please click here


UCL - Update in Neuromuscular Disorders

7-10 May 2019

London, UK

This clinical course concentrates on childhood and adult neuromuscular disorders with an emphasis on clinical cases, natural history and management.

This 4 day course is designed for specialists with an interest in neuromuscular disease; the first two days concentrating on paediatric neuromuscular disorders and the latter two days on adult neuromuscular disorders.

For more information click here


Familienkonferenz von ZNM - Zusammen Stark! (Family Conference of ZNM - Together Strong!)

10-12 May 2019

Hessen Hotelpark Hohenroda, Germany

This conference is for German-Speaking people interested in and/ or affected by centronuclear myopathy, myotubular myopathy and central core myopathies (caused by gene mutations in MTM1, DNM2, RYR1, SEPN1, BIN, TTN, ...)

The objective of this event is to gather the families, to counsel them in their daily lives, to explain latest achievements in research but also to make researchers and therapists aware of our group.

For more information please contact Jennifer Bilbao (jennifer.bilbao@znm-zusammenstark.org) or go to the event website


More information on upcoming NMD related events and conferences can be found on the TREAT-NMD website

29th March 2019
TREAT-NMD Newsletter - 29th March 2019
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