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11th September 2015
TREAT-NMD Translational Sciences Conference - registration update!

Growing the drug pipeline for neuromuscular diseases: optimizing resources for clinical development of new therapies - 6-8 December 2015

The TREAT-NMD International Conference 2015 is designed to address some of the key challenges facing the neuromuscular community as we move forward with developing new therapies for patients. Each session will be highly interactive with the audience, who will represent all key stakeholder groups: patient organizations, academics, clinicians, industry and regulators. The sessions will address and introduce the state of the art in each area and then interactive discussions with the session participants and audience will address key topics facing the community. Topics include: the challenges of trial design, outcome measures, standards of care, post-marketing and registries. As in previous conferences, these discussion sessions ensure there is maximum interaction between the audience and the invited experts.

The Conference will be held at the historic Cosmos Club in the heart of the DuPont Circle region of Washington DC.

Participation is strictly limited to 200 and we anticipate the conference to be a sell out as tickets are selling fast.

Book now to avoid disappointment.

The conference hashtag is now live #TNMD15 follow us on Twitter to keep up to date with all the news.

First LGMD Global Awareness Day approaches!
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The first worldwide celebration of Limb Girdle Muscular Dystrophy (LGMD) Awareness Day will take place on 30 September 2015. This first awareness day is intended to be an annual collaborative effort to raise awareness of this group of rare neuromuscular diseases.

All patients, family members, organizations, health care professionals, researchers, drug developers, public health organizations and any association with an interest in LGMD are invited to join together and become an “Ambassador” of Limb Girdle Muscular Dystrophy Awareness Day.

The Limb Girdle Muscular Dystrophy Awareness Day team has developed some resource information to help you plan and implement your awareness day efforts. To keep abreast of global initiatives and the educational components of the day you are encouraged to visit the dedicated Facebook page and a number of “Spotlight Interviews” will also be available. As the day draws nearer why not look at the Dare to Bust A Move” campaign and encourage your friends and family to participate.

Go to www.lgmd-info.org for further information about the day and how to get involved!

Final call for nominations to join TREAT-NMD Executive Committee
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In accordance with the TREAT-NMD Alliance charter, the TREAT-NMD Alliance Executive Committee is seeking three additional members: two representing patient organizations and one academic member. If you are interested in nominating yourself or a colleague please send your nominations to Stephen Lynn by Wednesday 16 September 2015 and provide a short supporting statement. 

Nominees are expected to be or willing to become members of the TREAT-NMD Alliance and agree with the TREAT-NMD Alliance Charter. All TREAT-NMD Alliance members (as of September 16) will be invited to vote for their preferred candidate. The successful candidates will be announced in October and join the TREAT-NMD Alliance Executive Committee to help with the strategic planning and direction of the Alliance. The new Executive Committee will meet in person immediately after the TREAT-NMD Conference on 8 December 2015 in Washington DC.

Please consider taking on this vital role of a member of the TREAT-NMD Alliance’s Executive Committee.

If you have any questions about the Executive Committee please contact the Secretariat at Stephen Lynn.

Are you making the best use of the PhenoSearch tool?
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The PhenoSearch facility within the Care and Trial Site Registry (CTSR) allows users to share and discover information about undiagnosed patients and puzzling cases. Information can be input to provide a full and detailed clinical picture of a patient allowing users to find and contact colleagues who see patients or families with a similar phenotype. Those already registered with the CTSR are able to view cases already posted and identify those of research interest where collaboration might be possible.

This is a really important and significant part of the CTSR which will make it easier for researchers and clinicians across the world to collaborate with one another through 'match-making' those with similar cases.

PhenoSearch allows users to list a working diagnosis, description of clinical phenotype, results of any investigations, mode of inheritance and photos with the appropriate consent. Other members of the CTSR will be alerted to the new post by email and can view the details securely by logging in.

The addition of this facility and the expansion of the CTSR to cover neurodegenerative conditions was undertaken as part of an EU FP7-funded research project into rare neuromuscular and neurodegenerative disease, NeurOmics.

Find out more about the CTSR.

Foot care for people with Charcot-Marie-Tooth disease (CMT)
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A Practice Brief focusing on foot care for people with Charcot-Marie-Tooth disease (CMT) has been developed by Professor Josh Burns and the Centre of Research Excellence in Neuromuscular Disorders. The resource is especially designed for frontline allied health clinicians such as podiatrists, physiotherapists, orthotists and pedorthists.

The guide provides a description of CMT signs and symptoms, tips for facilitating diagnosis for an individual showing signs and symptoms of CMT and strategies for regular care of the feet and ankles of someone with CMT, including stretching interventions and recommendations for foot and ankle orthoses. It also provides key sources of information and support for people with CMT and their treating health professionals.

Find out more about the guide on the Murdoch Childrens Research Institute website.

Facioscapulohumeral muscular dystrophy - guidelines published
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The American Academy of Neurology (AAN) and the American Association of Neuromuscular & Electrodiagnostic Medicine's (AANEM) guidelines on facioscapulohumeral muscular dystrophy (FSHD) were published in July 2015.

The guides, which are endorsed by the FSH Society and the Muscular Dystrophy Association, have been developed as an educational tool for neurologists, patients, family members, caregivers and the general public. For further information about the guides, which are available for both clinicians and patients, can be found on the AAN website.

Duchenne muscular dystrophy - 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 Onlus meeting (Feb 2015, Rome Italy) and Duchenne Connect meeting (June 2015, Washington DC, US).

Financial support to Dr Aartsma-Rus by Duchenne Parent Project Onlus to attend the Duchenne Parent Project meeting in Rome and by the Duchenne Parent Project Netherlands to attend the Duchenne Connect meeting in Washington is gratefully acknowledged.

PLOS publishes Imperatives of DMD guide
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The Imperatives of Duchenne muscular dystrophy, a one page guide summarizing the key elements of comprehensive care for people living with DMD, has recently been published by PLOS and is free to access from their website.

The guide has now been translated in to 24 different languages with Slovak and Korean most recently becoming available via the DMD section of our website.

The guide was developed through an international collaboration between Parent Project Muscular Dystrophy (PPMD), United Parent Projects Muscular Dystrophy (UPPMD) and TREAT-NMD.

EURORDIS Awards 2016: Call for nominations
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Nominations for the EURORDIS Awards 2016 are now being taken.

The EURORDIS Awards, now in their fifth year, recognize outstanding accomplishments and leading work in the field of rare diseases whilst acknowledging the exceptional contributions that patient advocacy groups, volunteers, companies and policy makers make towards reducing the impact that rare diseases have on people's lives.

Kate Bushby, Professor of Neuromuscular Genetics at Newcastle University, UK, and recipient of the EURORDIS Scientific Award 2015, commented on her win, “The kind of partnerships that we’re in within the rare disease field can last a lifetime. Partnerships between patients and researchers affect how we look after patients, how we do research and how we try to bring new treatments to the table. This award reflects our commitment to such partnerships now and in the future”.

An individual, patient organization or company whose hard work and dedication merits recognition can be nominated before the closing date of 31 October 2015. Please refer to the nomination criteria for further information about various categories and to find out about the whole process. Winners will be announced that the EURORDIS Awards Ceremony on 23 February 2016 in Brussels.

Please contact Sharon Ashton if you have any questions about the process.

SMA Europe - 8th International call for SMA research projects
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The 2015 call for SMA Projects is open to any research project (those of a collaborative nature are encouraged) aimed at finding a therapy for Spinal Muscular Atrophy (SMA) or at elucidating the basic pathophysiological processes of the disease. Priority will, however, be given to projects concentrating on the following areas:

- Understanding and function of the SMN complex and possibly other factors, independent of SMN, as it relates to the pathophysiology of SMA
- Innovative approaches for therapy of SMA, including targeting non-SMN pathways
- Projects addressing bottlenecks impairing rapid translation from basic research to clinical trials, including; innovative outcome measures & endpoints and appropriate methodology to follow disease progression and treatment effect
- The natural history of SMA

The overall goal of SMA-Europe is to help the dedicated international scientific and medical community in its search for therapies for SMA. Time being critical for people with SMA, preferences will be given to projects that have the greatest potential to overcome barriers to translation of advances in basic science and to accelerate the identification of effective treatments.

The application deadline for projects is 9 December 2015.

For all the information about how to apply please click here.

Preparations for first European Reference Networks call underway
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The first call for European Reference Networks (ERNs) is fast approaching. The European Commission is organising its 2nd major ERN conference in Lisbon in October 2015, which will clarify details of the application process and offer workshops to support the process; however, the first call is expected in January 2016 (and must be launched by the end of May at the latest).

As a preparatory step towards the constitution of a rare neuromuscular disease ERN a group of neuromuscular specialists participated in a web conference on the 26 August 2015. The conference was hosted by Professor Kate Bushby at the John Walton Muscular Dystrophy Research Centre. The webinar outlined the official process for establishing ERNs and approving members, and explored the mandatory criteria to be met. A preliminary model for a rare neuromuscular ERN was presented, demonstrating the scope of clinical expertise required to complement the collaboration already cemented under TREAT-NMD. The participants discussed the kinds of services likely to be expected from the ERN and clarified the immediate next steps for participants.

A recording and slides from the webinar can be found here.

For more information about the Webinar please contact Teresinha Evangelista

EMA organises orphan medicines workshop
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The European Medicines Agency (EMA) is organizing a workshop on 7 December 2015 to discuss the approach that should be followed by medicine developers to demonstrate the significant benefit of an orphan medicine over existing treatments. As more and more medicines for rare diseases are becoming available, sometimes in the same therapeutic area, demonstrating this benefit has become increasingly complex and is one of the criteria medicines that treat rare diseases must fulfill to benefit from 10 years of market exclusivity once they have been authorized.

The workshop will bring together medicine developers, regulators, healthcare professionals, academia, patients, health-technology-assessment bodies and healthcare payers who need to register by 31 October 2015 if they wish to participate.

The views, interests and concerns of the various stakeholder groups will help the Agency develop further guidance on the significant benefit of orphan medicines for medicine developers.

The workshop which will be broadcast live online, will also provide an opportunity to explore how the evaluation of a significant benefit relates to health-technology-assessment bodies’ assessment of relative efficacy in the context of reimbursement decisions.

World Duchenne Awareness Day 2015 achieves targets
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The second World Duchenne Awareness Day took place earlier this week on 7 September. We are delighted to announce that the campaign, which received High Patronage from European Parliament, has reached its target of selling over 10,000 balloons enabling the great awareness work to continue.

The TREAT-NMD Secretariat at the John Walton Muscular Dystrophy Research Centre are pictured with others marking the day by releasing a number of red balloons in front of local television cameras. Find out more about the day.

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11th September 2015
TREAT-NMD newsletter - 11th September 2015
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