20th December 2017
Chair's Review of 2017

Dear Readers,

As this is the last Newsletter of 2017, it gives us a good opportunity to review the year, and look at some of our highlights, as well as look forward to 2018.

Our history

2017 marked an important Milestone for TREAT-NMD, as this was the 10 year anniversary since the start of TREAT-NMD.  We started in 2007 with funding from the European Union Framework Program (FP).  The initial partners included academics, patient organisations, and companies.

The original funding ended in 2011, but an awareness for the need for such a vital network, with the tools and platforms that had been developed, and the motivation in the field, meant that TREAT-NMD continued to exist, and indeed grow, with the backing of various funding streams under the term ‘TREAT-NMD Alliance’.  In 2012 the Alliance was established with a wider global remit, and a wider disease spectrum.

The aim of the initial network was to ‘reshape the NMD research environment’, which was very much achieved and continues to be built and improved.  The resources developed have been heavily utilized by both academia and industry.

The network and its resources, now supports all stages of therapy development and aims to improve the health and quality of life of people around the world with a wide variety of NMDs.

As is customary in an end of year review I would like to celebrate some of our achievements.

Our achievements

Since October 2016, TREAT-NMD have helped to organise nine different international meetings around the world, including an Outcomes Measures Workshop in January 2017, a DMD Masterclass in May 2017 and Of Mice and Measures in October 2017.  The TREAT-NMD Secretariat has also attended a number of international clinical and or scientific meetings in the past year where posters and presentations have been exhibited. Particular highlights being the PPMD Meeting in July 2017 (TREAT-NMD and TACT posters) and at WMS in October 2017, where the Registries poster was presented.

Our ever increasing interactions with Industry mean we are now working with over 16 different companies!

We have been very successful in being involved in grants from a number of different funders for example IMI2- PREFER, and also a number of Educational Grants from different companies.

In line with our ten year anniversary we are very proud of our publication as a review article “Translational Research in Europe for the Assessment and Treatment for Neuromuscular Disorders (TREAT-NMD)”, the publication of the Family Guides for DMD and SMA and also for our pioneering work on helping to develop a Global NMD Platform for the collection of longitudinal data, including post marketing surveillance data.

We have undertaken four registry enquiries this year, all on DMD and have a further five enquiries in the pipeline. There have been two TACT Meetings in 2017, one in Edinburgh, Scotland in April and the other in Montreal, Canada in October. Five out of six applications were from academics and all six were in DMD. New members have been recruited to the extended panel this year and we are delighted to announce that from October 2018, Annamaria de Luca will take over as TACT Chair after 3 years of Kathryn Wagner’s expert leadership. Kathryn a big thank you from us all!

Towards the close of this year, we had a really successful and informative conference in Freiburg in November.  It was attended by over 290 people. We received lots of positive feedback from this conference, with an appreciation for the diversity of topics and areas covered.  If you haven’t attended one of our conferences before, may be our next one could be the one for you!

With this in mind, it is important to keep developing and growing the network.  Our aim is to continually reach out to new members.  We currently have 420 members and we have set a target to make that number 1000 by the time of our next conference in 2019.

To achieve this, we need your help!  Help us raise awareness of the network and encourage people to become members.  We will very soon be deciding where to hold our next conference, and as a member, you could help us to decide on the venue!

Thank you!

I will also take this opportunity to thank the past and present members of the Executive Committee. I would also like to thank the Secretariat in Newcastle for their work in supporting the ExecutiveTACT 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


2017 TREAT-NMD Conference
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The 5th TREAT-NMD International Conference was held in Freiburg, Germany from the 27-29 November 2017 and marked the theme of growing the drug pipeline for neuromuscular diseases: optimizing resources for clinical development of new therapies.

As in previous conferences the agenda was designed to address some of the key challenges facing the neuromuscular community, as we move forward with planning for the delivery of future therapies to patients.

Each session was highly interactive with the audience, who represented all key stakeholder groups: patient organizations, academics, clinicians, industry and regulators.

The sessions addressed the following:

  • Ten Years of TREAT-NMD
  • Emerging Treatment Strategies for NMD Treatment
  • Non-drug Treatments and Innovative Outcome Measures
  • Regulatory Exchange Matters
  • Looking for a New Deal for Better Access to Rare Disease Innovative Therapies
  • Data Integration and Gene Discovery
  • Biomarkers - Animal Models
  • Standards of Care
  • Product Specific 'Industry' Session

The conference which was sold out, was attended by over 290 delegates from across 33 countries. We would like to thank all the speakers and the session chairs for delivering an excellent programme, which you can find on the TREAT-NMD Conference web site. We would also like to thank all of our sponsors and exhibitors, whose participation and support made this event possible.

Alongside the TREAT-NMD Conference we also held meetings of the TREAT-NMD Global Database Oversight Committee (TGDOC) and the TREAT-NMD Executive Committee. Thank you to all who attended these meetings in Freiburg and who helped make the meetings a huge success!

Announcing Partnership with Journal of Neuromuscular Diseases
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We are pleased to announce a new partnership between TREAT-NMD and the Journal of Neuromuscular Diseases (JND). The partnership will see our respective teams working together to give a platform to the latest developments in neuromuscular diseases research.

The JND is dedicated to providing an open forum for original research that will improve our fundamental understanding and lead to effective treatments of neuromuscular diseases.

The JND aims to support the development of important tools for clinicians and scientists in the field, which aligns with TREAT-NMD's focus, as well as our goal to establish best practice care for neuromuscular patients worldwide.

TACT Meeting (Montreal) - 3 DMD Applications
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The TREAT-NMD Advisory Committee for Therapeutics (TACT) met in Montreal, Canada from 24th -25th October 2017 for its 16th meeting. The TACT core group also gathered on Monday 23rd October to discuss the running of the committee.

The meeting, held on 24th and 25th October brought together more than 20 multidisciplinary members of the TACT committee as well as the Secretariat. Tracey Zoetis from SciLucent, USA joined the Core Committee and we welcomed a number of new reviewers to our extended panel:

  • Marni Jacobs (Children’s National Health System, USA)
  • Michael Rudnicki (Ottawa Hospital Research Institute, Canada)
  • James Tidball (University of California, USA)
  • Craig Campbell (London Health Sciences Centre, UK)
  • Terry Partridge (Children’s National Hospital, USA)
  • Aidan Cappelli (living with Duchenne, representing Jesse's Journey, Canada)

We also had 3 observers, David Bull (Duchenne UK, London, UK), Laura Hagerty (Muscular Dystrophy Association (MDA), Atlanta, USA) and Nicholas Maragakis (Johns Hopkins University, Baltimore, USA), in order that they could learn more about how TACT works and to encourage applications from translational research into amyotrophic lateral sclerosis (ALS).

During the review meeting the TACT reviewers discussed the 3 proposals submitted. Within 6 weeks of the meeting the committee generated a report providing recommendations to these applicants and a non-confidential summary of each will be published on the TREAT-NMD website in January.

The proposals reviewed on this occasion were:

  1. Metformin and L-Citrulline in Duchenne Muscular Dystrophy – Dirk Fischer, University Children’s Hospital, Basel, Switzerland. Lead reviewer, Petra Kaufmann
  2. Mesoangioblast-mediated exon skipping for genetic correction of exon 51 mutation – Giulio Cossu, University of Manchester, UK. Lead reviewer, Elizabeth McNally
  3. Taurine as a therapy for Duchenne Muscular Dystrophy (DMD), and Becker Muscular Dystrophy (BMD) – Peter Arthur, University of Western Australia. Lead reviewer, Mike Kelly

Plans are now underway for the next meeting which will be held from 4th -5th July 2018 in Vienna, Austria. Interested applicants should contact the TACT coordinator, Cathy Turner (catherine.turner@ncl.ac.uk) as soon as possible to discuss submission in time for this meeting. We also now welcome applications in ALS.

TACT has received generous financial support from neuromuscular patient organisations including: PPMD, Duchenne UK, Cure Duchenne, MDUK, MDA, Joining Jack, Duchenne Ireland, Myotubular Trust, Duchenne Now, Duchenne Children’s Trust, SMA Europe.

2018 UK Neuromuscular Translational Research Conference
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The MRC are pleased to announce that registration is now open for the 2018 UK Neuromuscular Translational Research Conference. The conference will be held on Thursday 19th & Friday 20th April 2018 at the Fitzwilliam College, Cambridge.

The conference is designed to engage both neuromuscular clinicians and scientists, nationally and internationally. Highlights will include: Showcasing latest developments in neuromuscular science and their translation into patient benefit, UK and international speakers who will provide overviews of developments, and platform and poster presentations from submitted abstracts. The draft programme is available here.

If you would like to submit an abstract, you can find out more information here. Please be aware that the deadline for abstracts is 3rd January 2018.

For more information, contact Christine Oldfield (cnmd.contact@ucl.ac.uk).

EURO-NMD 1st Annual Meeting
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EURO-NMD held its first annual meeting on 30th November, in Freiburg, Germany. Over 120 people registered for the meeting including 61 healthcare providers and external attendees interested in finding out more about the new network, how it was developed and what it is planning to achieve.

The meeting was designed to reflect the different aspects of the network and as such the structure of the day, in part, mirrored the structure of the network itself.

The programme, which now features links to a number of the talks, is available on the website.

Your New Years' Resolution - Become a TREAT-NMD Member!
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The TREAT-NMD Executive Committee invites you to become a member of the TREAT-NMD network and help us reach our 1,000 membership target by 2019!

Membership is free and you will benefit from closer ties with the network, as well as being able to take advantage of the benefits below:

  • Discount on TREAT-NMD conference registration fees
  • 20% discount to the Journal of Neuromuscular Diseases individual yearly subscription and 10% discount to Open Access fee for papers being submitted
  • Opportunity to nominate yourself or nominate a TREAT-NMD member to fill a vacancy on the Executive Committee
  • You get a vote (including a vote on the location of the next conference!)

To become a member (individual or organisational) please complete the online application form here.

Egyptian Neuromuscular Patient Society
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The Egyptian Neuromuscular Patient Society was founded in May 2016 by president and CEO Sherifa Motawaa in partnership with the Egyptian Neuromuscular Registry coordinated by Dr. Rasha El Sherif. The Egyptian Muscular Dystrophy patient society is the first Patient Society serving patients of muscle disease (DMD, SMA, LGMD, MD, CMD, FSHD & GNE) in Egypt. The society mission is to encourage raising awareness of muscle disease in Egypt through:

1. Education

• Stressing an importance of applying standards of care by providing educational materials, organizing local meetings and media programs in different cities to support and educate medical professionals, patients and their parents about the disease.

• Highlighting the importance of disease registration in the Egyptian Neuromuscular Patient Registry, to help promote the research work in the field of muscular dystrophy and clinical trials.

2. Advocacy

• Ensuring that the muscular dystrophy patient’s voice is heard in the Egyptian parliament, and that patients are included in public health policies, through meeting with the health representatives in the parliament.

• A key achievement of the society is their active role in passing and approving a law in the Egyptian parliament (November 2017) stating it will include all muscle disease patients as part of the national health insurance.

3. Care

• One of the biggest missions of the society is to establish specialized muscular dystrophy care centres in Egypt, to provide multidisciplinary care and therapies for all patients.

4. Provide a supportive environment

• The organisation aims to improve the quality of life of people affected by muscular dystrophy within Egyptian society.

For more information on the Egyptian Neuromuscular Patient Society, you can access their Facebook page here. Alternatively, you can contact Sherifa Motawaa by telephone: +20112 3734572 or ‬‭+20109 2578295‬.

Breaking the Access Deadlock to Leave No One
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The paper ‘Breaking the Access Deadlock to Leave No One Behind’ is a contribution from EURORDIS and its over 700 members and follows a reflection process initiated at the EURORDIS Symposium on “Improving Patient Access to Rare Disease Therapies” (February 2017). It offers a synthesis of our analysis, reflections and perspectives on the issue of access to rare disease therapies.

The paper sets out a new four-pillar approach to tackling the challenges that prevent patients’ access to care and medicines, as well as the ambition to have 3 to 5 times more new rare disease therapies approved per year, 3 to 5 times cheaper than today, by 2025.

In the paper, we call for a new model based on a collective conversation involving all stakeholders (patients, the pharmaceutical industry, national competent authorities, national health ministries, researchers, scientists and regulators). The four-pillar approach encompasses:

  1. A new blueprint to cut costs and fast-track R&D;
  2. Early dialogue and cooperation between healthcare systems on the determination of value of a medicine and on patient access;
  3. A transparent European cooperation framework between national healthcare systems for the determination of fair prices and of sustainable healthcare budget impacts; and
  4. A continuum approach to evidence generation linked to healthcare budget spending.

Read the full position paper here.

Clinical Outcomes in DMD – Article
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A new cross-sectional study, which analysed clinical data of 5345 genetically confirmed Duchenne Muscular Dystrophy (DMD) patients from 31 countries, held within the TREAT-NMD global DMD database. To our knowledge, this is the single largest cohort of genetically confirmed DMD patients to date and has allowed us to highlight the effect of corticosteroid treatment on important DMD clinical milestones. Loss of ambulation in patients never treated with corticosteroids occurred on average 3 years earlier than in corticosteroid treated patients. Corticosteroid treated patients were also less likely to need scoliosis surgery or ventilatory support and there was a mild cardioprotective effect of corticosteroids in the older patient population (aged 20 years and older). Further analysis showed that patients with a single deletion of exon 45 showed an increased survival in contrast to other single exon deletions, suggesting a greater mutation specific variability in clinical progression than previously expected. This study underlines the importance of data collection via patient registries and the critical role of multi-centre collaboration in the rare disease field.

To read the full article "Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database”. Z. Koeks et al., 2017, Journal of Neuromuscular Diseases, please click here.

Nominees for TREAT-NMD Patient and Academic Representation
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In January 2018, the TREAT-NMD Alliance Executive Committee will be seeking 2 new members for the Executive Committee; an academic and patient representatatives.

All TREAT-NMD Alliance members will be eligible to put themselves forward as a candiate or nominate a fellow TREAT-NMD member.

The successful candidates will join the TREAT–NMD Alliance Executive Committee to help with the strategic planning and direction of the Alliance.

If you are an academic, patient or patient advocate representative and are interested in helping us to move towards better treatments and care, then please consider becoming a member of the Alliance’s Executive Committee.

Summer School of Myology - July
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The 21st edition of the Summer School of Myology will take place between 18th-23rd July in Paris, France. The meeting will be held at the Institut de Myologie, Hôpital de la Salpêtrière.The summer school aims to bring together physicians and scientists who are interested in basic myology in general and/or in neuromuscular disorders. Some of the topics covered include: Basic Myology, Muscular Dystrophies, Spinal Muscular Atrophies and hereditary neuropathies and Congenital Muscular Dystrophies.

For more information on the event and to register, please click here. Registration is open now and applications will be assessed until Mid May 2018.

PPMD 1st Annual Duchenne Clinical Conference
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Parent Project Muscular Dystrophy (PPMD) have announced that their 1st Annual Duchenne Clinical Conference will take place between the 24th-26th January 2018, at the Marriot Harbour in Sanibel, Florida.

The conference aims to support clinicians in their ability to provide care to patients and families living with Duchenne, by providing up to date clinical education, resources, materials and the opportunity to network. The conference is designed specifically for: physicians, advanced practice nurses (nurse practitioners, clinical nurse specialists), allied health professionals, psychologists, clinical researchers, education and behavioural specialists who provide healthcare and/or services for pediatric and adult patients and families living with Duchenne Muscular Dystrophy. The agenda has been designed to cover comprehensive care and services for Duchenne at all stages of the diagnosis, from screening to adulthood.

For more information and to register, please click here.

Neuromuscular Translational Summer School
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The Neuromuscular Translational Summer School is a joint venture between TREAT-NMD and EURO-NMD. The Summer School aims to address the following translational research aspects:

  • Bench to bedside research
  • Regulatory system
  • Clinical trials
  • Outcome measures
  • Patient communication
  • Registries and biobanks
  • Biomarkers and –omics.

Lasting five days, the Summer School will be held at the Institute of Genetic Medicine at the University of Newcastle upon Tyne. This comprehensive course will serve as a superb foundation for those wanting to direct their medical or research career in the direction of neuromuscular diseases. Application details will be released shortly on EURO-NMD's website.

UK FSHD Patient Registry: Use of Data in Recent Publication
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The UK Facioscapulohumeral Muscular Dystrophy (FSHD) Patient Registry has been used as a tool to conduct research for a recently published academic paper. The published paper is called “Chronic Pain Has a Strong Impact on Quality of Life in Facioscapulohumeral Muscular Dystrophy” and was written by Dr Germán Morís and Dr Teresinha Evangelista (Newcastle University, UK) with help from fellow researchers based across the UK.

This paper focussed on the characteristics and impact of pain on quality of life (QoL) in patients with FSHD and was recently published in Muscle & Nerve (November, 2017). In the paper, analysis was carried out on data collected via the UK FSHD Patient Registry. The aim of this paper was to determine the frequency, localisation and intensity of pain in the FSHD1 population and to evaluate the influence of pain, age, sex, disease duration and ambulatory status on quality of life (QoL). In total 398 UK FSHD Patient Registry participants were included in the analysis.

To read the full article, click here.

To read the lay summary, click here.  

Please contact Phillip Cammish (phillip.cammish@ncl.ac.uk) for further information regarding this publication.

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International Congress on Spinal Muscular Astrophy

25-27 January

Krackow, Poland

SMA Europe are pleased to announce their upcoming International Scientific Congress on Spinal Muscular Atrophy (SMA), which will be held at the Jagiellonian University. 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 guidelines, the conference aims to bring together experts in this emerging discipline to discuss new developments. For more information and to register, click here.

20th December 2017
TREAT-NMD Newsletter - 20th December 2017