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27th January 2017
TREAT-NMD Conference - Nov 2017

We are delighted to announce that registration is now open for our 5th international conference (27th-29th November 2017) focussing on translational medicine in inherited neuromuscular diseases.

The aim of this international conference 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. As in the previous years, the TREAT-NMD conference is designed with ample time for informal interactions with the speakers and colleagues.

The conference will take place in the beautiful city of Freiburg which is situated in the heart of the Black Forest in the South Western tip of Germany. It will be held in the Konzerthaus 'Concert Hall' Freiburg which is centrally located.

To secure your place and take advantage of our early bird registration please click here or for further information visit the conference website.

We also have a number of exciting sponsorship opportunities available for this event. For more details please take a look at our sponsorship brochure or contact us at info@treat-nmd.eu or +44 (0) 191 241 8839

We look forward to seeing you in Freiburg in November!

FDA Approves Spinraza for SMA
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On Friday 23rd December 2016, the American Food & Drug Administration (FDA) gave approval for the use of SPINRAZA (nusinsersen) for the treatment of Spinal Muscular Atrophy (SMA) in paediatric and adult patients – the first treatment for SMA ever developed.

The FDA approval of SPINRAZA was based on positive results from multiple clinical studies in more than 170 patients. The data package included the interim analysis of ENDEAR, a Phase 3 controlled study evaluating SPINRAZA in infantile-onset, as well as open-label data in pre-symptomatic and symptomatic patients with, or likely to develop, Types 1, 2 and 3 SMA.

In ENDEAR, infantile-onset SMA patients treated with SPINRAZA achieved and sustained clinically meaningful improvement in motor function compared to untreated study participants. In addition, a greater percentage of patients on SPINRAZA survived compared to untreated patients. In open-label studies, some patients achieved milestones such as ability to sit unassisted, stand or walk when they would otherwise be unexpected to do so and maintained milestones at ages when they would be expected to be lost. The overall findings of these studies support the effectiveness of SPINRAZA across the range of SMA patients, and appear to support the early initiation of treatment.

“This is a landmark day for the SMA community with the first approved drug for the disease. Cure SMA and our entire community have worked together tirelessly for more than thirty years to make this happen. It is important for all of us to stop and celebrate this shared accomplishment that will change and improve the lives of SMA patients,” said Jill Jarecki, PhD, Cure SMA’s Chief Scientific Officer.

Neurocalcin Delta - A Novel Protective Modifier for SMA
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Autosomal recessive Spinal Muscular Atrophy (SMA) affects around 1:6000 people, every 1:35 is carrier and it is the most frequent genetic cause of infant death.

Scientist from the University of Cologne (Institute of Human Genetics) have identified a novel protective modifier of SMA called neurocalcin delta (NCALD). It is propsoed that this modifier has the ability to restore disturbance of endocytosis, a key cellular mechanism impaired in SMA.

A team of scientists led by Brunhilde Wirth showed that across various SMA models (worm, zebrafish and mouse), blocking or reducing the levels of NCALD rescues SMA-derived disease pathological changes of the motor neuron (MN) and neuromuscular junction (NMJ). The team of scientist were also able to demonstrate that  a combinatorial therapy using low dose of survival motor neuron (SMN)- antisense oligonucleotides and 50% NCALD reduction, restored survival, MN and NMJ function and motor abilities in a severe SMA mouse model.

The scientist believe that results from the study “confirm that endocytosis is a major cellular mechanism perturbed in SMA" and that the findings also underline the potential of protective modifiers to greatly help elucidate our understanding of the disease mechanism and advance therapeutic developments.

This research identifies a new and potentially exciting future combinational therapy to efficiently treat SMA. The findings which have been published in the prestigious American Journal of Human Genetics can be read in full here.

Rare Disease Day 2017
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Held each year on the last day of February, Rare Disease Day is an annual awareness-raising event coordinated by EURORDIS. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. The campaign targets the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and everyone with an interest in rare diseases.

Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world, reaching hundreds of thousands of people and resulting in a great deal of media coverage.

The political momentum resulting from Rare Disease Day also serves advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries. Even though the campaign started as a European event, Rare Disease Day has progressively become a worldwide phenomenon, with the USA joining in 2009, and patient organisations in 85 countries around the world participating in 2015. 2016 saw all 28 EU nations participate, as well as organisations in Andorra, Indonesia, Tanzania, Tunisia and Uganda for the first time.

Reduced Myostatin Levels Linked with Genetic
Muscle Disease Progression
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Myostatin is a molecule that is actively released from the muscle tissue and acts to block muscle cell growth. Until recently, there was very little evidence available on myostatin levels in patients with inherited neuromuscular disorders.

New findings from a collaborative study between Pfizer and the John Walton Muscular Dystrophy Research Centres (Newcastle University, UK) have found that the amount of myostatin is reduced in muscle disorders such as Duchenne Muscular Dystrophy (DMD) and HIBM. The authors, who measured and compared the amount of myostatin in healthy volunteers (control group) with 7 different muscle disease groups, also observed the same trend in wild-type (control) and mdx (DMD) mice, which are popular models used for preclinical studies.

The findings from this article also suggest that disease progression may play a role in the reduction of myostatin levels.

Further studies are still required to help us fully determine myostatin involvement in the events of inherited muscle disease and to assess this molecules efficacy as a biomarker of muscle disease progression.

To read the full article click here.

International GNE Myopathy Registry Newsletter (6th Edition)
Multiple Languages Now Available
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The International GNE Myopathy Disease Monitoring Program (GNEM-DMP) registry has released its 6th newsletter in a range of languages which are available to download here from the TREAT-NMD website. 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.

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

This 6th issue contains the following articles:

  • 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

For more information on the GNEM-DMP Registry please visit www.gnem-dmp.com or email GNEM@treat-nmd.eu

Highlights of the 9th Euro-Latin-American Summer School of
Myology EVELAM-Punta
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The 9th Euro-Latin American Summer School of Myology EVELAM (Escuela de Verano Euro Latinoamericana de Miología) took place at the start of December and was held in the heavenly city of Punta del Este. Since the first Summer School was held in Santiago, Chile (2008), there has been a growing interest in the EVELAM, with this meeting attracting over 150 students and speakers from across 12 European and Latin American countries (including Argentina, Brazil, Chile Colombia, Ecuador, Peru and Uruguay) over three full days.

The main aim of the meeting was to enhance knowledge on neuromuscular diseases, as well as to give an update on selected topics in the field, within the framework of Latin American actuality. Most relevant topics of modern myology were addressed, from technical to social issues, such as diagnostic and therapeutic approaches of the neuromuscular patient; current genetic diagnostic testing, muscular imaging; hereditary myopathies in children and adults; mitochondrial myopathies, motor neuron diseases, immune mediated neuromuscular disorders, as well as timely updates on current therapeutic possibilities and clinical trials in the field.

Patients and families, and patient associations from Uruguay (Miastenia Gravis Uruguay, ELA Uruguay) were also present at the meeting, to share their vision, achievements and projects with participants. The contributions that these associations made to the Summer School were particularly valuable.

Most popular amongst students were the clinical and pathological workshop sections of EVELAM, comprising a selection of real cases that exemplify relevant issues (including those contributed by participants), to enquire about diagnosis, management and treatment.

EVELAM has once again provided an opportunity for an exchange of knowledge between Latin America and Europe, and offered an instance for continuous medical education to advance the care, diagnosis and treatment of patients with neuromuscular diseases.

The 10th EVELAM is scheduled for early December 2017, in Bogotá.

Registration Now Open for 1st International Conference
on Imaging in Neuromuscular Disease
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Registration is now open for the 1st International Conference on Imaging in Neuromuscular Disease which 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. The conference 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.

Early bird registration is now open until the 5th May 2017. Fees range from €200 for academics/PhD students to €350 for Industry participants. The cost per person registered 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.

To register please click here or for a draft programme please click here.

You can find further information on the venue, where to stay and how to get to the meeting on the conference website. To discuss sponsorship opportunities and to receive a Sponsorship Brochure for this conference, please contact Olav Veldhuizen (olav.veldhuizen@ncl.ac.uk).

Funding Available for MYO-MRI Training School and Short
Term Scientific Missions
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The MYO-MRI project "Applications of MR imaging and spectroscopy techniques in neuromuscular disease: collaboration on outcome measures and pattern recognition for diagnostics and therapy development", led by Volker Straub and Pierre Carlier, is funded by COST, the European Cooperation for Science and Technology. It aims to overcome the main hurdles to rollout of MR techniques by sharing expertise and data, validating protocols across platforms and exploring the potential of MRI and MRS as a helpful diagnostic tool and a quantitative outcome measure in NMD clinical trials. The training of early stage researchers is an important aspect of the MYO-MRI project and we are pleased to announce  the following activities:

3rd MYO-MRI Training School (26th – 28th June 2017) – Open for Applications

26 – 28 June 2017 sees the start of the 3rd MYO-MRI Training School. The three day course will be held at the Institut de Myologie in Paris and will give an in-depth introduction into the 4 Working Groups that make up the project, as well as a range of topic specific modules. The course is funded by COST and hosted and supported by the Institut de Myologie in Paris.

Days two and three will see a range of Working Group “learning tracks”. These “learning tracks” will offer participants in-depth modules related to the theme of a Working Group. The modules will be taught by experts from the MYO-MRI project itself.

Participation is limited to 24 participants in total. The Training School is free to attend and COST will make a small contribution towards travel and accommodation.

The Training School is now open for applications, and we encourage Early Stage Researchers in particular to apply. If you are interested in attending, you can apply to attend here.

Applicants will be asked to fill in the application form, and to choose the learning track most suited to their scientific background and research interests. Participants will be selected based on experience and suitability to the modules.

Year 3 Short Term Scientific Missions (STSMs) - Call for applications now open

STSMs are a fundamental part of MYO-MRI and give Early Stage Researchers the opportunity to undertake research in another country for 5-90 days. A grant of up to €1500 is available to cover travel and accommodation. Reports from STSMs undertaken in Year 1 can be found here.

Please visit the following link if you wish to apply to undertake an STSM. Please note that STSMs must be started and completed by 30 April 2017.

Further details on the MYO-MRI project can be found on the project website.

For additional questions please contact Olav Veldhuizen (olav.veldhuizen@ncl.ac.uk)

A Fond Farewell: Steve Lynn
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TREAT-NMD bids farewell to Dr Stephen Lynn this month and we would like to take this opportunity to thank Steve for all his hard work as TREAT-NMD's project manager.

Steve has been involved in the network from almost the very start and his influence, guidance and help in the network's formative years proved invaluable, resulting in the creation of a solid foundation from the network, which still operates today.

On behalf of all the network stakeholders, we want to wish him the very best for the future in his new role working for the NHS in Newcastle, UK.

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3rd IRDiRC Conference

8 - 9 February 2017

Paris, France

The 3rd conference of the International Rare Diseases Research Consortium (IRDiRC) will take place at the conference center of Université Pierre et Marie Curie (UPMC) Sorbonne Universités, Jussieu (Paris). Rare disease research stakeholders from around the world will gather to share their experience and knowledge, that will help shape and advance the field, ultimately working together to bring diagnoses and therapies to all rare diseases patients.

To register or to find out more information, please visit the Conference Website.


COLVI Scientific Meeting

24 - 25 February 2017

Washington, D.C., USA

Please visit the CURE CMD website for further details.


3rd Congress of the European Academy of Neurology (EAN)

24 - 27 June 2017

Amsterdam, Netherlands

The 3rd EAN Congress will take place this summer (June) in the city of Amsterdam. The meeting will bring together thousands of scientists and clinicians from all over Europe and the rest of the world. The Programme Committee has prepared an outstanding programme with high quality scientific sessions meeting the hot spots of development and attractive teaching courses covering topics which are most important for the practising neurologist. To see the complete scientific programme click here.

To find out more about the congress meeting please click here.


CMD Scientific and Family Conference

8 - 9 July 2017

Washington, D.C., USA

The 2017 CMD Scientific and Family Conference (SciFam) is an opportunity for individuals affected by Congenital Muscular Dystrophy (CMD), along with their families, to speak directly with the world's leading CMD experts, strengthen their community, and build momentum toward treatments and a cure. This unprecedented event will bring together more CMD-focused experts, scientists, researchers than ever before.

Starting with a kick-off dinner on Friday, July 7th, SciFam will include subtype- and age-specific breakout sessions covering topics such as nutrition, research updates, discussion groups, and more. Full-group workshops will include biobanking, financial planning, and more. Cure CMD looks forward to welcoming as many families and experts as possible, and has worked hard to raise funds to ensure this conference is affordable. Travel scholarships are also available, and livestreaming may also be available for those who can not attend in-person.

Registration will open on the 17th February 2017, and early bird rates will be available until March 1. Please visit our website for more information.

Job Opportunity - UK
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Paediatric Junior/Senior Clinical Research Fellow Neuromuscular Disease

Alder Hey Children's NHS Foundation Trust

Salary: £36,312 to £47,647 pa

Closing date for applications is 16 February 2017.

The Neuromuscular Service at Alder Hey Children’s Hospital is one of the largerest centres in the UK involved in neuromuscular research.

An exciting opportunity has arisen to appoint a Junior/Senior Clinical Research Fellow in Paediatric Neuromuscular Diseases at Alder Hey Children’s Hospital, Liverpool. We are looking to recruit a UK or EEA qualified doctor who is interested in gaining practical experience in clinical trial execution and methodology and/or an interest in neuromuscular diseases. The post will be for one year in the first instance, with the possibility of extension to two years and possibly longer depending on the applicants preferences.

The successful applicant will work in a large multidisciplinary team on a portfolio of clinical studies, and will have the opportunity to contribute to scientific publications and undertake audit projects

For further information please click here or if you wish to discuss the post, please email Dr Spinty (sspintyresearch@alderhey.nhs.uk)

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27th January 2017
TREAT-NMD newsletter - 27th January 2017
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