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18th December 2013
A festive message from our Chair - Annemieke Aartsma-Rus

Dear All,

As the newly appointed Chair of the TREAT-NMD Alliance it is my privilege to address you all personally in this Christmas edition of the TREAT-NMD newsletter. A lot has happened since the initiation of the TREAT-NMD Alliance in 2012 and also in 2013 there was a lot to be thankful for. TREAT-NMD is still here! We have had a very successful and well attended TREAT-NMD conference in Newcastle in October. TREAT-NMD also coordinated this year the response of key stakeholders to the EMA draft guidelines on the clinical investigation of medicinal products for the treatment of Duchenne and Becker muscular dystrophy. Of course there were also some disappointments, such as the results of the phase 3 clinical trial on drisapersen. However, with that also came the realisation of how much was learnt from performing the trial and how far we have come since TREAT-NMD started in 2007.

The future looks exciting. Multiple trials are ongoing and new trials are being planned, discussions with regulators on the particular challenges of rare disease therapy development are becoming more frequent, and with the next generation sequencing new discoveries are being made on a regular basis. Having said this, the original focus areas of TREAT-NMD are no less relevant now than they were 2 years ago when the 3 year work plan was drafted. Now that we are two years into the 3 year plan, the work plan will be updated and achievements of the past two years will be listed on the TREAT-NMD website in spring 2014.

The success of TREAT-NMD depends on the willingness of everyone to collaborate and to network. This means that the successes of TREAT-NMD are thanks to each and everyone of you. I would therefore like to thank you all for your time and dedication to TREAT-NMD. It has been a pleasure to work with you all and I am looking forward to continuing to work with you.

I would like to extend a special thank you to the TREAT-NMD secretariat at Newcastle University There is a lot  going on behind the scenes to keep TREAT-NMD running and the majority of this is not done by the Vice-Chair and the Chair, but by the secretariat. So they deserve all our thanks.

I would also like to thank all the Executive Committee members for their time and dedication to help shape the TREAT-NMD Alliance and give direction for the future. A special thanks goes to the two Executive Committee members who are stepping down Anna Ambrosini and Hanns Lochmüller for their effort and to Eric Hoffman for his willingness to take on the role of  the Vice-Chair. A great thank you  to the patient representatives for their time and dedication and help to identify the focus of TREAT-NMD and the needs of the patients. I would like to thank also the Taskforce for helping to shape TREAT-NMD. And, last but not least, a great thank you to all the TREAT-NMD Alliance members for being part of the network and being involved in helping to accelerate therapy development for neuromuscular disorders.

I hope you have a good Christmas holiday and a blessed 2014.

Annemieke Aartsma-Rus

A look back at TREAT-NMD in 2013
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As the end of the year is approaching we would like to thank everyone who has contributed to the TREAT-NMD achievements this year, some of which are outlined below. Thank you!

Since 2012 TREAT-NMD has had a new governance structure via the newly constituted TREAT-NMD Alliance, with an elected 13-member Executive Committee, a new charter, and a highly successful new membership scheme which so far has attracted almost 300 individual and 100 organization members. The Alliance continues to provide an infrastructure for collaboration and conversation between researchers, patients, pharmaceutical companies and regulators. The most recent examples was a coordinated response by TREAT-NMD to the public consultation on the EMA draft guideline on the clinical investigation of medicinal products for DMD/BMD submitted at the end of August and the highly successful TREAT-NMD Alliance Conference which took place in Newcastle, UK, in October this year.

The work on the development of the TREAT-NMD tools and resources whose aim is to speed up therapy development for the neuromuscular disorders has continued in 2013.

The availability of standardized operating procedures (SOPs) to unify experimental protocols used to test the effects of new treatments in animal models is a step that has undoubtedly improved the comparability of studies from different laboratories. Over the last year there have been further developments in this area and now there are over 40 different operating procedures available to download from the TREAT-NMD website. Representing five different models of three different diseases this area has been accessed by almost 1,300 downloading over 1,700 copies of these SOPs in 2013. All the procedures are regularly monitored and updated as required. Interested parties can be kept up to date with the operating procedures by leaving their email address with us in this section.

The EuroBioBank network, coordinated by Fondazione Telethon, is now composed of 24 members. There are 100,000 samples available across the network which can be browsed via the online catalogue, with about 15,000 new samples collected annually. The 11th EuroBioBank Annual General Assembly was held in Milan on 14 October this year. The meeting focused on ISO certification for biobanks and for the entire EuroBioBank network, cost recovery options for use of biomaterials, informed consent issues, and integration with registries containing clinical data. The General Assembly agreed that the EuroBioBank network should apply to become an associated partner of RD-Connect.

2013 also saw the inclusion of Danish, Latvian, Vietnamese and Spanish translations of care guides on the website. This brings our total number of languages represented across DMD, SMA and CMD on the website to 31. All of our family guides derive from academic consensus publications that have then been rewritten in a way that patients and their families find more understandable. These articles, along with the guides themselves are available the website. In 2013, cumulatively, these have been downloaded approximately 3,000 times.

The TREAT-NMD Advisory Committee for Therapeutics (TACT) under Dominic Wells as the chair continues to go from strength to strength reviewing compounds at different stages of clinical research brought forward by both by academic and private sector applicants. To date TACT has held 8 review meetings, 5 in Europe and 3 in the US, and has reviewed a total of 24 program applications from both academic investigators and industry in the following areas: DMD, BMD, SMA, CMD and IBM. Of the 24 compounds reviewed 15 were from industry and 9 were from academic applications; 13 were for novel compounds and 10 were for repurposed drugs (1 had no lead compound); 12 were preclinical stage applications and 12 were clinical stage applications. Therefore, TACT believes that it is fulfilling its remit to be an important resource to many different groups at varying stages of the drug development pathway.

The Alliance is continuously committed to working with patients and patient organizations as equal partners in all aspects of research, and Filippo Buccella (Duchenne Parent Project Onlus) has kindly agreed to oversee a patient forum which has been developed this year. The Project Ethics Council continued to communicate and debate with one another throughout 2013. We are delighted to announce that Elizabeth Vroom is now the new Chair of the council and has taken over from Simon Woods. We would like to take this opportunity to thank Simon for all his hard work and also to Elizabeth for taking on the role.

In 2013, the TREAT-NMD affiliated patient registries have expanded both geographically and into new disease areas, such as: Myotubular and Centronuclear Myopathy (MTM/CNM), GNE myopathy and specific types of limb girdle muscular dystrophies (LGMDs). To reflect this expansion the website has been updated to include many new disease areas and a new patient registries section was launched in October. The section contains information about a wide range of neuromuscular diseases, provides links to existing registries and includes a tool kit designed to help anyone planning to setup a new registry. Registry curators from across the world attended this year’s TREAT-NMD conference including a meeting of the TGDOC chaired by Jan Verschuuren and Hugh Dawkins.

During 2013 the Care and Trial Site Registry (CTSR) was expanded to include additional neuromuscular conditions as well as, for the first time, neurodegenerative centres as part of the EU-funded Neuromics project. The registration of these additional sites began in September in collaboration with TREAT-NMD, Neuromics and the Ataxia Study Group (ASG) and will further increase the reach and scope of the CTSR. At the same time, a ‘phenotype search facility’ has been introduced to the CTSR. This will allow researchers to put out a call to registered centres for patients fitting a particular clinical profile. It is hoped that this will speed up the identification of new disease causing mutations and allow better stratification of patients. For details of this new facility and to register or update your site, please visit the CTSR.

The significance of both the patient registries and the CTSR for clinical trial feasibility and recruitment, as well as their influence on standards of care, has been acknowledged in the three papers published this year. The publications featured the development and use of several important TREAT-NMD platforms for translational research: the national DMD registries, the national SMA registries and the CTSR.

"The TREAT-NMD Duchenne muscular dystrophy registries: conception, design and utilisation by industry and academia", published in Human Mutation, describes in detail how the TREAT-NMD national patient registries for DMD were established.  It goes on to show how the registries have grown since their inception in 2007, and further highlights their success in fostering collaboration between academia, patient organisations and industry ultimately leading to increased clinical trial opportunities for patients and translating directly to improvements in patient care and treatment options. "Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe", published in the Journal of Neurology, describes the design, setup and utilisation of the TREAT-NMD national SMA patient registries. It further analyses a selection of clinical items, providing a snapshot of clinical data stratified by SMA subtype, and compares the results with published care recommendations. "The TREAT-NMD care and trial site registry: an online registry to facilitate clinical research for neuromuscular diseases", published in the Orphanet Journal of Rare Diseases, describes the development of the TREAT-NMD Care and Trial Site Registry (CTSR) and its utilisation for academic research and industry enquiries.

Please visit our publications page to access our latest papers. Further TREAT-NMD related papers planned to be published next year will also appear here in due course.

In 2013, TREAT-NMD has continued to regularly reach out to the neuromuscular community. The TREAT-NMD website recorded over 275,000 page hits in the last year which was generated by 53,000 individuals visiting the site. Our monthly newsletter reaches about 3,500 people and over the course of 2013 we have written almost 110 articles to help you keep up to date with all the different aspects of the neuromuscular world. The TREAT-NMD communication platform continues to adapt and develop to keep pace with technological advancement and also cater for the needs of the projects we are involved with. By following us on Twitter it has never been easier to keep up to date and in touch with events, just search for @TREAT_NMD.

The TREAT-NMD Alliance Executive Committee welcomes
two new members
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We are delighted to announce the election of two new members to the TREAT-NMD Alliance Executive Committee.

Professor Matthew Wood has been duly elected to the Executive Committee filling the academic position. Matthew is a Professor of Neuroscience at the University of Oxford, Co-Director of the Oxford Centre for Neuromuscular Science and is also Associate Head (Research) of the Medical Sciences Division of the University of Oxford.

Alejandra Pereda Alonso was also elected to the Executive Committee and is currently part of Duchenne Parent Project Spain, with specific responsibility for international research and development. Alejandra works in the investment banking industry and takes the patient representation position.

The voting overall was very close with all candidates receiving substantial votes, with 47% of TREAT-NMD Alliance members voted. However, in the end Matthew and Alejandra received the majority of votes for the academic and patient organisation seat on the Executive Committee respectively.

On behalf of the TREAT-NMD Alliance we want to thank all candidates for their interest in becoming a member of the Executive Committee, and we hope they will continue to support the activities of the TREAT-NMD Alliance in the future.

Jain Foundation releases automated diagnositc assistant
for LGMD
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The Jain Foundation is very excited to announce the release of their ALDA (Automated LGMD Diagnostic Assistant). The diagnostic odyssey of LGMD patients often takes many years. To shorten the process and reduce costs, this online tool has been developed to help physicians narrow down the subtype of LGMD that their patients are suffering from and facilitate a diagnosis to the genetic level. ALDA is a great example of how creative approaches combined with ingenious partnerships is changing the game in muscular dystrophy diagnostics. The Jain Foundation believes that the same principles are at work in all aspects of their research program. All of their partners are working together to make strong strides toward a better understanding of dysferlin biology to find a therapy.

The official press release can be found here and further details of the Automated LGMD Diagnostic Assistant can be found on the Jain Foundation website.

Video - the impact of DMD
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Parent Project Muscular Dystrophy (US) and United Parent Project Muscular Dystrophy (EU) have developed a powerful video to help regulators and the general public understand the impact of DMD on patients and their families and to spotlight the need for new therapies.

Sponsored by PTC Therapeutics and Prosensa Holding N.V. it features clinicians, researchers, and advocacy group leaders as well as parents and patients talking about the challenges they face. We are delighted to be able to have this available in the DMD section of our website.

Android app now available for Standards of Care for DMD
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We are delighted to inform you that the family guide for DMD, “The Diagnosis and Management of Duchenne Muscular Dystrophy” is now available as an app for Android smartphones. The team from the Department of Medical Biometry and Medical Informatics, and the Department of Paediatric Neurology and Muscular Diseases in Freiburg lead by Jan Kirschner has developed the application which is available in English and German for Android smartphones. You can download the application for free using the QR-Code provided or the by visiting Android app store.

The application contains the same information that can be found in the DMD family guide, which is available on both the TREAT-NMD and CARE-NMD websites. In an ongoing study at the University Medical Center Freiburg the effectiveness of this application will be monitored. Further information about this study can be found here.

The app will be extended with additional interactive functions. Additional languages and a version for Apple iOS (iPhone) are also planned.

Update on current TACT applications
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The TREAT-NMD Advisory Committee for Therapeutics (TACT) is pleased to announce that three applications were reviewed at the 8th TACT review meeting which took place 2-3 November in Newcastle upon Tyne, UK.

1. Jens Schmidt PhD, University Medical Centre, Göttingen, Germany. Blockade of nitric oxide-related cell stress as potential treatment for inclusion body myositis.

2. Denis Guttridge PhD, Ohio State University. NBD Therapy for Duchenne Muscular Dystrophy.

3. Carl Morris PhD, Rare Disease Research Unit, Pfizer Inc. Anti-GDF8 antibody for treatment of Duchenne Muscular Dystrophy.

This meeting was organised by TREAT-NMD and sponsored by Parent Project Muscular Dystrophy. The non-confidential summaries will soon be available in the TACT area of the website.

The next TACT review meeting will be held in Berlin, Germany, on 9-10 May 2013. This meeting will coincide with ECRD 2014: The European Conference on Rare Diseases & Orphan Products which is taking place in Berlin, Germany on 8-10 May 2014. Anyone wishing to submit a proposal for this meeting should contact the TACT secretariat louise.johnston@ncl.ac.uk before 17 January 2014 in order to discuss this further. The deadline for full applications is 10 February 2014.

E-Rare Joint transnational call
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On the 5 December 2013 E-Rare officially opened its 6th Joint Transnational Call for Research Projects on Rare Diseases (JTC 2014). The following 16 countries participate in this call: Austria, Belgium (Flanders), Canada (including Québec), France, Germany, Hungary, Israel, Italy, Latvia, Poland, Portugal, Romania, Spain, Switzerland, The Netherlands and Turkey.

This year the call is specifically dedicated to development of innovative therapeutic approaches for rare diseases. The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear translational research approach. Projects shall involve a group of rare diseases or a single rare disease following the European definition (a seriously debilitating and/or life-threatening disease affecting not more than 5 in 10.000 people).

The research projects have to focus on the pre-clinical development of therapeutic approaches in suitable existing animal or cell models. Therapeutic approaches can include (but are not limited to): cell based therapy; gene therapy and pharmacological therapy.

Rare infectious diseases, rare cancers and rare adverse drug events in treatment of common diseases are excluded from the scope of the call. The deadline for pre-proposal submission is 30 January 2014.

For more information, call text, guidelines, national contact points and all specific documents visit the E-RARE website.

International Translational Research Conference in Malaysia
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Newcastle University Medicine Malaysia will be hosting an International Translational Research Conference: 'Personalised Medicine - From bench to individual bedside' on Saturday 1 March 2014.

This conference will focus on Personalized Medicine - From bench to individual bedside and will bring world-renowned speakers from Newcastle Biomedicine at Newcastle University in the UK. This conference will provide the opportunity for multi-disciplinary collaboration with delegates from around the globe. Join us for stimulating discussion, socialising and networking. Registration for this conference is now open

Registration open for 13th Annual
King's College Neuromuscular Disease Symposium
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This annual meeting is aimed primarily at clinicians who treat patients with diseases of the peripheral nervous system and muscle, especially general adult neurologists but also clinical neurophysiologists, paediatric neurologists and clinical neuroscientists. It aims to provide a clinical update as well as an introduction to the science underlying neuromuscular disease.

Registration for this event is compulsory, further details can be found on the symposium website. For all related queries, please contact sophie.morris@kcl.ac.uk

ENMC - Research Manager position available
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The European Neuromuscular Centre has currently a part-time vacancy for the role of the Research Manager to join a small but dedicated team based in Baarn, Netherlands.

The ENMC is an international organization that is funded and steered by a group of European patient organisations. Its aim is to promote research into neuromuscular conditions by facilitating communication and collaboration amongst scientists and clinicians from all over the world through the organisation of workshops on dedicated topics.

The role of the Research Manager is essential for delivering the strategic aims and objectives of the organisation. The person will be responsible for overseeing the core activities which include the management of the workshop programme and for helping to raise the profile of the organization amongst key stakeholders.

The ideal candidate will have experience in people management and will have the ability to work independently to implement the strategic aims and objectives of an internationally operating organisation. They will have a positive and flexible attitude and will have excellent interpersonal and communication skills.

Closing date is 10 January 2014 and interviews will be held on 28 January.

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18th December 2013
TREAT-NMD newsletter - 18th December 2013
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