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25th July 2014
Significant hidden costs revealed in international study of
Duchenne muscular dystrophy

In the first international study of its kind, researchers have found that there are many different costs accompanying a rare condition such as Duchenne muscular dystrophy (DMD) and that there is a considerable financial burden carried by affected families.

The research, published earlier this month in the journal Neurology®, was led by Newcastle University (UK) and the Karolinska Institutet (Sweden) and carried out in collaboration with patient registries for DMD in Germany, Italy, the UK and the United States. Funded by GSK, the aim of the study was to estimate the total cost of illness and the economic burden of DMD.

Researchers asked 770 patients and their primary caregivers in Germany (173), Italy (122), the UK (191) and the USA (284) to complete a questionnaire on their experience of living with DMD and the impact this had on the need to access medical care, employment, leisure time and quality of life.

The publication is freely available to read on the journal's website.

Innovation & Research Acceleration for Rare Diseases
Innorare - a new application to the EU's Horizon 2020
Infrastructures Programme
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Innorare (Innovation and Research Acceleration for Rare Diseases) is the title of an application to be submitted to the INFRAIA-1-2014/15-integrating activity call in Horizon 2020 which is being assembled by RD-Connect WP7 leader Kate Bushby and her team at Newcastle University. By bringing together the existing research infrastructures offering services in the biomedical sphere with rare disease experts, Innorare aims to build a new resource that will add value to clinical translational research in rare diseases by assembling and streamlining the tools and resources offered by the existing infrastructures and where necessary improving their specificity to rare disease. If funded, Innorare aims to launch in April 2015.

To disseminate information while the project is still in its planning stages, an Innorare holding website has been developed. The website provides further background about the project and lists the partners. The team are keen to reach out to members of the rare disease community who will be the users of the infrastructure resources that Innorare will establish and would like to invite interested parties to join the Innorare User Group. To register your interest for Innorare, please click here.

World Duchenne Awareness Day - 7 September 2014
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The first World Duchenne Awareness Day will take place on 7 September 2014. Duchenne patients and organisations all over the world will participate in order to raise more awareness for Duchenne Muscular Dystrophy.

Duchenne Muscular Dystrophy has many faces around the globe which will be presented during this day.

If your organisation or your country is not yet participating in the preparations for this World Duchenne Awareness Day and you want to join this global effort please contact Nicoletta Madia or Elizabeth Vroom at uppmd@euronet.nl as soon as possible!

Israeli DMD & BMD goes live!
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The last couple of months have been very productive for the Israeli organization for Duchenne and Becker muscular dystrophy, Little Steps. Late May saw 250 pariticpants from across the neuromuscular community get together for their 3rd annual conference. Guest of honor was Israeli Health Minister, who gave her commitment to improve the standard of care and encourage the research of rare diseases in Israel.

The Israeli DMD & BMD registry was also launched at the conference. The registry developed in cooperation with TREAT-NMD will help patients connect with researchers for the purpose of participating in clinical research, which may result in new therapies, treatments and better understanding of their disease.

DMD Imperatives now available in 17 languages
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The one-page guide to best-practice care for Duchenne muscular dystrophy has been translated into seven additional languages in the last month.

Farsi, Hebrew, Japanese, Latvian, Russian, Turkish and Ukranian join the eleven existing translations, through to the work of volunteer translators worldwide. Further translations are in progress, including Chinese, Greek, and Hungarian.

We welcome additional translators for new languages: if you can help, please the TREAT-NMD Secretariat.

4th newsletter from the Global FKRP Registry
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The latest newsletter (Issue 4) from the Global FKRP Registry is now available to download in PDF format.

The newsletters are lay friendly and used as a way to inform patients and families, as well as doctors, about what is going on with the Registry and anything else FKRP-related.

Some highlights of this issue:

Patients’ stories – the Registry is starting a library of stories from patients and will feature whatever they feel is important to share;
Research updates – gene therapy studies in mouse models of LGMD2I and MRI as an objective tool to measure disease progression in LGMD2I;
Scandinavia – understanding why these countries are so important to the Registry.

The Registry now has a logo which will appear on the Registry website soon along with some other important changes to the website and questionnaires.

See all of the newsletters on the Global FKRP Registry website: www.fkrp-registry.org/newsletters.

For more information on the Global FKRP Registry, including how to participate, then contact Karen Rafferty

World Muscle Society Congress 2014
Registration for pre-congress teaching course now open
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The 12th WMS Pre-Congress Course will be held 6 - 7 October 2014 in Berlin, Germany.

The emphasis of this years' course is on the clinical approach of patients who present with symptoms of weakness and the interpretation of the muscle biopsy. The course will be entirely practical and case reports will be presented to highlight key clinical concepts. There will be an opportunity to discuss the integrated diagnostic approach to patients shown on video, and to look at muscle biopsies. Techniques for the performance of conduction studies on commonly examined individual upper and lower limb nerves will be illustrated with interpretation of the results.

Aimed at medical specialists and also at those still in training and other congress attendees the course is designed to improve the diagnostic competence of professionals dealing with patients with neuromuscular diseases.

Deadline for registration is 31 August 2014.

Myotubular Trust - 3rd European family conference
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Myotubular Trust's third European family conference took place on Saturday 12 July 2014 in London and involved families and researchers from sixteen different countries.

The conference provided something for everyone affected by myotubular and centronuclear myopathy, and was a very uplifting day. Affected Individuals, families and children were able to meet and exchange views, hear from the leading researchers in our field and to discover some of the latest ideas about how to manage the condition. A comprehensive list of presentations and workshops that were held throughout the conference can be found on the Myotubular trust website along with photographs of the day.

Early career research fellowship in the genetics of neurological
and neuromuscular disorders
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Western Australian Neuroscience Research Institute, Murdoch University, Perth, Western Australia

An outstanding opportunity for a research fellow exists as part of a world-class research environment in Australia's oldest medical research institute. All of this is located in Perth, Western Australia a city with an exceptional quality of life.

Through the generous support of the McCusker Charitable Foundation, a 5-year Early Career Research Fellowship is available to undertake research on any aspect of the genetics of neurological and neuromuscular disorders. The Fellowship will be awarded on a competitive basis to an early career researcher who completed his or her PhD degree. The successful candidate will establish his or her own research group.

Closing date for applications is 8 August.

Further details can be found here. Alternatively contact Steve Wilton if you have any further questions.

New name for UK Spinal Muscular Atrophy charity
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Spinal Muscular Atrophy Support UK is the new name for The Jennifer Trust for Spinal Muscular Atrophy, whose work has been on-going since 1985. Spinal Muscular Atrophy Support UK is a UK-wide national charity which informs, supports and empowers families and individuals affected by all forms of SMA and raises awareness of the condition. They also fund and support the research community addressing the causes, treatment and management of SMA.

The decision to change the name has been made after a long period of research and consultation. Spinal Muscular Atrophy Support UK will continue with the same work and services. The new name was launched at the Day-to-day with SMA conference that took place on 28 June near Stratford upon Avon, UK.

You can read more about the background to why this change has been made on the charity’s website.

European Paediatric Neurology Society - 4th research meeting
register now to take advantage of early bird discount rate
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Registration is now open for the European Paediatric Neurology Society’s 4th Research Conference which will be held on 12-13 September in Bucharest, Romania.

The conference acts as a forum where researchers in the field of paediatric neurology can present their work and results, discuss ideas and develop new collaborative relationships with fellow researchers.

This year’s conference will retain its usual successful structure beginning with two plenary sessions the first one focusing on dystonia followed by a session on European grants and networking.

Several parallel working groups, including one on neuromuscular disorders, have also been organized providing an opportunity for researchers at different stages of their careers to interact and debate various pre-arranged topics. Suggested topics for the Neuromuscular group this year include SMA trials, MRI in NMDs, and pulmonary outcome measures in NMDs. At the end of the conference each group will then be expected to present a summary of their work.

The two young neurologists who present the most outstanding and innovative ideas in the area of paediatric neurology will be awarded the EPNS research prize.

The deadline for the early bird discounted registration is 1 August.

Details of the full programme, group sessions, general information about the conference and how to register can all be found on the EPNS website.

TREAT-NMD Alliance Executive Committee meets in Nice
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The TREAT-NMD Executive Committee held a face-to-face meeting in Nice on 9 July 2014. It was a satellite meeting of the 13th International Congress on Neuromuscular Diseases (ICNMD).

The Executive Committee meeting was led by Chair Annemieke Aartsma-Rus and was attended by Executive Committee members and a number of Task Force members. It was a very productive meeting. One of the main topics discussed was the recently updated TREAT-NMD action plan, which sets out the priorities of the Alliance for the next few years. The updated action plan is available on the TREAT-NMD website.

International Congress on Neuromuscular Diseases is a regular meeting of the Research Group on Neuromuscular Diseases-World Federation of Neurology (RGNMD-WFN). During this years' conference there was also a TREAT-NMD specific session: TREAT-NMD Alliance: Omic technilogies for Translational Reasearch. Further details of the congress can be found on the ICNMD website.

PPMD Connect conference 2014
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The 20th PPMD conference took place 26-30 June in Chicago and was themed “strength happens together”.

The meeting attracted a record number of participants (570), mainly patients and parents. Among the meeting highlights were the announcement that PPMD submitted guidelines for therapy development for DMD to the FDA as mentioned in last month's newsletter, the publication of a study into risk/benefit perception of DMD caretakers, which can provide regulators with much needed data on this topic, as well as an overview of numerous planned and ongoing clinical trials by representatives from industry and academia.

Finally, PTC received the ‘path to progress’ award from PPMD to acknowledge their dedication to the field and persistence in developing Translarna (Ataluren), which recently received conditional approval from EMA.

TREAT-NMD newsletter - summer break
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This is our final newsletter before we take our traditional summer break and we would like to take this opportunity to thank everyone who has been involved with the newsletter throughout the last year.

We will return to your inboxes once again later on in September with news and information from the neuromuscular field. If you have any news or information that you would like to be considered for inclusion in forthcoming newsletters, you can always submit your article here.

We hope that those of you with vacations coming up have a great break and we look forward to contacting you all again in September.

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Past newsletters
25th July 2014
TREAT-NMD newsletter - 25th July 2014
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