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28th March 2018
New TREAT-NMD Executive Committee Members

Voting for the new Academic representative and two new Patient Organisation representatives on the TREAT-NMD Executive Committee, closed on Wednesday 7th March and 117 votes from TREAT-NMD Members were received, counted and verified. Following a successful voting process, we are delighted to announce that Maggie Walters secured the highest number of votes for the Academic representatives seat and Fabiola Maria and Elizabeth Vroom secured the highest votes for the two Patient representatives seats. Maggie, Fabiola and Elizabeth have accepted their position on the Executive committee with immediate effect.

Maggie Walters is an Associate Professor at the Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Germany.  Through her involvement with the German Muscular Dystrophy Network (MD-NET), she has been involved with TREAT-NMD from the very start. Maggie is a member of the Scientific Advisory Board of the Muscular Dystrophy Association of Germany (DGM), and responsible for the German patient registries (DMD, SMA, CMT, IBM, PAM/MFM  and FSHD), and together with Volker Straub for the German part of the international FKRP registry. Maggie still works in Clinics and is involved with Clinical trials, so understands the patient journey and their unmet needs.

Fabiola Bertinotti has been appointed as a patient representative. Since her son's diagnosis with FSHD, she has been an active member of patient communities and was a founding member of FSHD Europe. Fabiola brings extensive experience as a carer and her expertise gained in being actively involved in numerous patient organisations, in various roles, to the TREAT-NMD Executive Committee.

Elizabeth Vroom has been an active member of TREAT-NMD since 2007 and was a presenter at our 5th International Conference in Freiburg last year. Elizabeth is an Orthodontist by training and has a son diagnosed with Duchenne. Elizabeth is the founder of Duchenne Parent Project Netherlands and is also the Chair of the World Duchenne Organisation (previously United Parent Project Muscular Dystrophy). Elizabeth has also been actively involved in the generation of the Standard of Care guidelines for Duchenne.

As we welcome these new members to our Executive Committee, we would also like to thank previous Executive Committee members who have now stepped down; Ichizo Nishino (Academic representative), Filippo Buccella (Patient Organisation representative) and Petra Palmgren Lindwall (Patient Organisation representative), for their excellent contributions which has helped shape the TREAT-NMD Alliance.

Recruitment Opportunity for Professorial Chair/Senior Lecturer (UK)
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The John Walton Muscular Dystrophy Research Centre (JWMDRC) at Newcastle University and the Newcastle Hospitals NHS Foundation Trust is looking to recruit a Clinical Academic to join the centre focusing on genetic neuromuscular diseases.  This will be a Professorial Chair/Senior Lecturer position. The post holder will be expected to extend and contribute to the broad spectrum of translational research activities of the Centre, which is part of the Institute of Genetic Medicine. The job description is about to be advertised, and in the meantime informal enquiries can be made to Professor Volker Straub (volker.straub@newcastle.ac.uk).

Additional information about the JWMDRC can be found here.

TREAT-NMD 2019 Conference Location - Announcement
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The TREAT-NMD Executive Committee are pleased to announce that the location of the 2019 Conference will be in Leiden, The Netherlands.

This location was chosen by our TREAT-NMD Members in a survey completed in February.

Our 2017 Conference (Freiburg, Germany), which focused on translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients, was a sell out and was deemed a huge success by our global partners.

Further details about the 2019 conference, including dates and venue location will be released soon.

Orphan Medicines: Getting the Facts Straight
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On the 28 February (Rare Disease Day), the European Medicines Agency (EMA) released a questions and answers document that addresses common misunderstandings around orphan medicines and how the orphan designation is given.

The EMA plays a central role in facilitating the development and authorisation of medicines for rare diseases (including neuromuscular diseases), which are termed ‘orphan medicines’ in the medical world. The document called 'Rare diseases, orphan medicines: getting the facts straight' helps explain why orphan designation doesn't guarantee marketing authorisation and who secures the availability of an orphan medicine in the EU.

For more information, please read the full document here.

Myotubular and Centronuclear Myopathy Family Conference
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The conference organisers invite all those affected by Myotubular and Centronuclear Myopathies, their families, health care professionals and carers to their family conference in London, July 14th & 15th 2018.  The conference, which is being hosted jointly by Myotubular Trust and ZNM - zusammen stark e. V., provides the opportunity to hear scientific presentations including recent developments on potential treatments for all centronuclear myopathies. There will also be a series of workshops on topics such as ventilation, physiotherapy, nutrition, independent living, holidaying and wheelchair services.

For more information and to read about previous Family Conferences please visit their websites, or email contact@myotubulartrust.org with any questions.

Muscular Dystrophy Conference in Bangalore, India
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The 1st International Conference of the Dystrophy Annihilation Research Trust (DART) took place from February 23-24 2018 in Bangalore, India. The conference brought together close to 200 participants, mainly parents and patients with Duchenne and Becker Muscular Dystrophy and Limb Girdle Muscular Dystrophies, but also national health care professionals and researchers, and international speakers, including 2 representatives from TREAT-NMD (Annemieke Aartsma-Rus and Andoni Urtizberea).

Presentations focused on care and management of Duchenne, the updated care guidelines and the importance of corticosteroid treatment and physiotherapy. The benefits of steroids and physiotherapy were reiterated also by the patients. Going to school was deemed important by clinicians, parents and patients and often schools can be made accessible to muscular dystrophy patients with minor adjustments.

There were presentations on international and local research into new therapies. Patients and parents shared their stories about living with muscular dystrophy, and national and international policies were discussed. There was ample time for questions from the participants to the presenters during panel sessions and dedicated Q&A sessions at the end of each day. The conference was deemed a great success by all participants.

Genetics Matters Event
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Genetics Matters is an annual outreach event organised by the Institute of Genetic Medicine at the Newcastle University, UK and is a part of the international Rare Disease Day.

The topics cover various aspects of research and genetics, and this year the focus was particularly on rare diseases.

During the event, representatives of RD-Connect and RD-Action, two European initiatives on rare diseases, led a discussion table explaining how the EU addresses the rare disease challenge by supporting international collaboration and data sharing in research.

The event was attended by around 100 people.

Publication: A Study on Teenage Exercise in Dysferlinopathy
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Usually, Dysferlinopathy populations have an unusually high level of presymptomatic sporting ability. It was hypothesised that activity could be related to subsequent disease progression, and so an investigation was carried out, using 202 patients from the Jain Clinical Outcome Study (COS). Screening questionnaires were used to ascertain the type, level and frequency of all physical activity prior to symptom onset. Other information, including first symptoms and first and full time wheelchair usage was also utilised. After classifying the exercises and analysing the 10-18 years ages group, a statistical analysis was carried out.

In this study it was found that patients who recalled greater teenage exercise levels demonstrated increased risk for earlier symptom onset and wheelchair requirement. Generally, exercise is considered beneficial in muscular dystrophies, and so this finding in Dysferlinopathy may suggest a unique underlying pathological mechanism. This study describes an association of intensive exercise during the teenage years with earlier disease onset and faster rate of disease progression in patients with Dysferlinopathy.

To read the full article, please click here.

TREAT-NMD Global Network of Registries
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The TREAT-NMD Global Network of Registries are recognised as a leading tool for trial planning and recruitment in the neuromuscular community at an international level. In addition, this global network of registries can help researchers to answer key questions about global disease prevalence. The TREAT-NMD Global Registries also support other activities to improve patient care, such as the assessment of care standards in different countries.

There have been over 20 enquires to the TREAT-NMD Global Registries since 2009. These have included both DMD and SMA enquiries consisting of feasibility enquiries for clinical programmes looking at exon skipping and nonsense mutation, as well as recruitment for clinical trials looking at exon skipping and a multinational study focusing on health economics. All of this is with the aim of ensuring that promising new treatments can be brought to patients as quickly as possible.

Pharmaceutical companies interested in locating patients for a clinical trial (that meet certain criteria, e.g. age range, ambulation status, FVC%) are able to request information from the TREAT-NMD Global Registries in a secure fashion that means that patients' details are never disclosed directly to the company, but companies can speedily find the information they need.

Pharmaceutical companies interested in requesting information should contact Julia (Julia.Stickland@ncl.ac.uk) or Amanda (Amanda.Robe@ncl.ac.uk).

Registry Curators interested in our Registries Toolkit or finding out more about our Annual Curators Meeting should contact Anne (Anne.Oyewole@ncl.ac.uk) or Joanne (Joanne.Lee@ncl.ac.uk).

Please note: The TREAT-NMD Global Registries are governed by a Charter and the TREAT-NMD Global Database Oversight Committee (TGDOC). The TGDOC is responsible for reviewing the requests for data from the Global Registry and it votes on whether the request is in line with the Global Registries charter and in patients' best interest.

DMD Research Overview Updated
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The TREAT-NMD research overview section for Duchenne Muscular Dystrophy (DMD) contains a succinct overview of therapeutic approaches that are in clinical development for DMD written in everyday language.

These pages have now been updated by Annemieke Aartsma-Rus to contain the latest clinical developments in the DMD field based on information presented at the Duchenne Parent Project meeting (February 2018, Rome, Italy).

Financial support to Professor Aartsma-Rus by Parent Project Onlus and Duchenne Parent Project Netherlands to attend meetings is gratefully acknowledged.

Project HERCULES - Update
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In November 2017, Duchenne UK launched Project HERCULES to support access to new treatments for Duchenne Muscular Dystrophy (DMD). Hercules is a unique international multi-stakeholder collaborative project that is working to develop tools and evidence to support Health Technology Assessments (HTA) and reimbursement decisions for new treatments for DMD. It brings together leading pharmaceutical companies, academics, patient organisations and advisers to develop and build a better evidence base for DMD.

Duchenne UK recently announced the seven pharmaceutical companies who are collaborating on Project HERCULES. The companies are: Pfizer, PTC Therapeutics International, Roche, Sarepta Therapeutics, Solid Biosciences, Summit Therapeutics plc and Wave Life Sciences.

Project HERCULES has commissioned a health economics team who will work with other work stream leads to ensure that all outputs will support HTA decision-making and will lead the work to develop a core economic model for DMD.

Although Project HERCULES focuses on DMD, it paves the way for similar approaches in other rare diseases, and has the potential to better demonstrate the impact of neurodegenerative conditions and the value of medicines in this field to help improve their chances of receiving positive HTA decisions. In February, the project was featured in UK newspaper, the Telegraph: Charity’s war on disease uniting big pharma rivals.

For more information, please visit Hercules.duchenneuk.org and read the Project HERCULES Fact Sheet.

10th Euro-Latin-American Summer School of Myology
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It is now a tradition within Latin American myology community, that at the end of the year the Euro-Latin-American Summer School of Myology called EVELAM (Escuela de Verano Euro Latinoamericana de Miología) will take place. Last year’s summer school was carried out in the mountainous city of Bogotá, Colombia, from the 30th November - 2nd December. More than 180 attendees and speakers from over nine European, Latin and North American countries gathered to teach, learn and discuss myopathies.

The aim of the meeting was to provide an update of selected topics in the field of myology and enhance the knowledge on neuromuscular diseases. Most relevant topics of modern myology were addressed including:

  • New genres to categories new subgroups of diseases
  • Technical 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 and Immune mediated neuromuscular disorders.

Patient’s associations of Spinal Muscular Atrophy (SMA) also attended and highlighted their current activities to benefit their associates. The contributions that these associations have made to the Summer School were particularly valuable.

Most liked by students were the discussions between speakers of clinical cases and their relationship to theories and practices presented. Those discussions comprised a selection of actual cases that exemplify relevant issues and others contributed by participants, to be informed about diagnosis, management and treatment. The course was held in Spanish, Portuguese and English. Since the first Summer School held in Santiago, Chile, in 2008, there has been a steadily growing interest in the EVELAM. This year, 180 students attended the meeting from Argentina, Brazil, Chile, Colombia, Ecuador, Peru, Paraguay, Mexico, and Uruguay. The 11th EVELAM is scheduled early December 2018 in Puerto Varas, Chile.

For more information, please click here.

TREAT-NMD Membership Total - Update
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In the December newsletter, the TREAT-NMD Executive Committee invited you to become a TREAT-NMD member. Our membership total has risen to 580 individual members in March! We are over half way to our target of 1,000 members by 2019.

TREAT-NMD membership is free and our individual members will benefit from:

  • 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 to vote on a number of TREAT-NMD matters!

Organisational membership is free and benefits include:

  • Organisational members will appear on the TREAT-NMD website to show they are affiliated with TREAT-NMD
  • Organisational members will be able to use the TREAT-NMD logo on their website to show that they are affiliated with TREAT-NMD
  • 20% discount to the Journal of Neuromuscular Diseases individual yearly subscription and 10% discount to Open Access fee for papers being submitted

To find out how to become a member and to apply, please click here.

If you are already a member and have recently changed your email address, please notify us of your new address by emailing info@treat-nmd.eu.

EMA Training Videos
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The European medicines agency (EMA) have published a series of training videos which are targeted at patients and consumers. The video series entitled 'EMA Basics' includes 10 videos which were developed to show how the EMA interacts with various stakeholders, including health care professionals, patients and consumers.

To accompany the videos, the EMA have also published presentation slides and related documents. To find out more and to access the videos and presentations, please click here.

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RD-Connect Annual Meeting 2018

16-18 April 2018

Athens, Greece

This will be the last RD-Connect annual meeting before the end of the first project funding period. The meeting will take place in the hotel Divani Palace Acropolis in the central part of Athens.

For further information, please click here.


UK Neuromuscular Translational Research Conference 2018

19-20 April 2018

Fitzwilliam College, Cambridge, UK

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.

For more information, please click here.

European Conference on Rare Diseases and Orphan Products (ECRD)

10-12 May 2018

Vienna, Austria

The European Conference on Rare Diseases and Orphan Products (ECRD) is the largest multi-stakeholder gathering in Europe for the rare disease community covering research, development of new treatments, healthcare, social care, public health policies and support at European, national, regional and international levels.

“Rare Diseases 360° – collaborative strategies to leave no-one behind” is the overarching theme of ECRD conference. The theme reinforces the unique quality of this event for the rare disease community in Europe, bringing together and facilitating effective policy discussions between all rare disease stakeholders. It also encompasses the comprehensive range of topic areas covered at the conference and the viewpoint of rare disease patients as equal experts, representing all rare diseases, across borders.

For more information, please click here.

Update in Neuromuscular Disorders

22-25 May 2018

London, UK

This annual 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 disorders and the first 2 days will concentrate on paediatric neuromuscular disorders, and the latter two days on adult neuromuscular disorders.

For more information about the event, please click here.

Translational Summer School

2-6 July

Newcastle-upon-Tyne, UK

This five-day summer school has been developed for researchers and clinicians interested in translational research.This course will address the following aspects as it travels along this established pathway.

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

Approximately 24 participants will be based at the Institute for Genetic Medicine, part of Newcastle University in the UK for the duration of the summer school.

During their stay, they will discover how networks such as the European Reference Network EURO-NMD and TREAT-NMD work and collaborate with patients and regulators to facilitate therapy development. Aspects such as standards of care, outcome measure development, biomarkers and others will be developed during the week. Attendees will also learn about the various interactions that take place between key stakeholders.

Attendees will learn how the regulatory system works, take part in a TACT style review and discuss ethical issues in clinical trials.

In addition, attendees will find out about various outcome measures and gain an appreciation of the need for standardisation and training in this area. They will participate in a clinical trial practicality forum as well as a patient communication workshop to demonstrate the results of both good and poor communication.

This comprehensive course will serve as a superb foundation for those wanting to steer their medical or research career in the direction of neuromuscular diseases whilst contacts made as a result of attending will, no doubt, prove to be invaluable.

Attendees who complete this course will not only be furnished with knowledge of the many different aspects that are involved in translational research but will also gain a deeper understanding and compassion for those involved in the whole trial process from researcher to patient.

For more information and to register, please click here.

28th March 2018
TREAT-NMD newsletter - 28th March 2018
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