23rd May 2014
Website for the Belgian Neuromuscular Diseases registry launched

The Belgian Neuromuscular Diseases Registry website has just been launched.

The registry was commissioned in 2008 by the National Insurance of Health and Disability Institute of Belgium. It aims to collect data to improve knowledge on neuromuscular diseases, enhance the quality of health services as well as to recruit patients for clinical trials.

Data is gathered by seven reference centers in the country and analysed by the Scientific Institute of Public Health. Information about patients living in the country and having one of the 62 neuromuscular diseases are entered in the database. To this day the registry is proud to have over 3500 registered patients. The registry is part of the TREAT-NMD DMD and SMA Global Registry.

Over the past five years the registry has improved its quality, however there is a consistent gap in the data from the south of the country, which influences the estimated prevalence of these diseases in the country. To this day, the true burden of neuromuscular diseases in Belgium is not known but actions have been undertaken to address these issues, one of which is reaching out to more patients through this website.

Further information about the registry and the link to the website can be found here.

TREAT-NMD Alliance - new priorities defined in updated workplan
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TREAT-NMD has always worked to a clearly defined "description of work", with agreed deliverables, milestones and expected achievements. This milestone-driven approach clearly drove the network's progress forward, therefore it was considered crucial to maintain this momentum by establishing new goals and defining the priorities and direction for future collaborative work across the NMD field.

This first ‘Action Plan’ built around the network’s core tools and resources has now been updated and the details of the outcomes achieved since the end of our EU funding are now available to read on our website.

The TREAT-NMD Executive Committee, Taskforce and Secretariat have worked on updating and defining a new set of priorities in the form of a second work plan document that will take the network through to 2016. As well as the tasks described in the Action Plan, additional projects led by network participants will continue to make use of the network tools. Anyone interested in contributing to these tasks or proposing new areas of activity for the network is invited to contact the named coordinator.

Click the "more" link to see a summary of all activities.

PPMD and TREAT-NMD publish "Imperatives for
Duchenne Care" leaflet
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PPMD, UPPMD and TREAT-NMD are pleased to announce the availability of a single-page summary of best-practice care in Duchenne muscular dystrophy (DMD). Based on the existing Care Considerations, it will broaden awareness of the "imperatives" in good DMD care, especially amongst non-specialists who are not familiar with the disease and will not have read the full Lancet publication or the condensed Family Guide.

Translations of the document are already available in Bulgarian, Czech, French, Italian, Polish and Spanish thanks to local patient organisations and medical professionals. To disseminate this information as widely as possible, we would be very pleased to hear from anyone who would like to translate the Imperatives into their local language.

Please contact Sunil Rodger at the TREAT-NMD Secretariat if you can help!

Raising awareness and care for DMD in China
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The past few months have seen several milestones in improving awareness and care for neuromuscular diseases in China, in particular Duchenne muscular dystrophy (DMD). In late February, China Central Television (CCTV, the main television broadcaster in China) ran a documentary on DMD. This featured an interview with a neurologist, Dr Wu Shiwen of the General Hospital of Armed Police Forces and it presented the experiences of two families living with DMD and a representative from the China DMD Care and Support Association (CCSA).

The programme has helped to raise awareness of DMD in China, and can be viewed online.

Efforts are also being made to broaden access to best-practice care. Four large hospitals – three in Beijing and one in Shanghai – now run multi-disciplinary clinics for DMD, while two other hospitals will be introducing similar clinics in the near future. Meanwhile, the Chinese DMD registry set up in September 2012 has rapidly expanded and there are currently over 660 patients registered.

A Camphill school was opened on 6 May by parents involved with the China DMD Care and Support Association, and will cater for boys with DMD as well as other children with special educational needs. Camphill communities, based on the philosophy of Rudolf Steiner, emphasise the dignity and valued contribution of every individual. For further information on the school, please contact Zhen Wang of the CCSA.


在过去的几个月里我们在中国完成了一些推动神经肌肉疾病认知度的几项工作。尤其是针对杜兴氏肌营养不良症(DMD ) 。在二月下旬,中国中央电视台(CCTV ,中国最主要电视广播公司)播报了DMD的纪录片。这个纪录片不仅采访了一个神经科医师武警总医院的吴士文大夫,和两个DMD家庭的生活以及分享了来自中国社会福利基金会MD关爱项目(简称 CCSA)代表的经验。该报道有助于提高DMD在中国的知名度及大家对DMD罕见病的了解,并可以在这里在线观看(中文) “http://cctv.cntv.cn/lm/yexian/ ” 。

同时国际上的多学科的照料方法也在中国被努力推广:目前四家大型综合性医院 - 三家在北京,一个在上海 - 开始进行多科室的针对DMD的联合门诊,在不久的将来还有其他两家医院也将推出类似的联合门诊。此外,中国的DMD国家患者注册开始于2012年9月,它的规模也在迅速扩大,目前已超过660名患者完成了注册。

MD关爱项目这些DMD孩子的父母为了DMD孩子以及其他有特殊教育需要的孩子于2014年5月6日在北京创建第一所治疗教育学校(Camphill)。 在Camphill社区的基础上,遵循鲁道夫斯坦纳的理念,强调每一个人的尊严和价值贡献。有关学校的更多信息,可以联系中国社会福利基金会MD关爱项目的代表。

Santhera announces successful outcome of phase III study in DMD
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Santhera Pharmaceuticals, one of the original partners of the TREAT-NMD network, announced supplementary results from its trial of Catena®/Raxone® in Duchenne muscular dystrophy (DMD) in a press release yesterday. The Santhera drug aims to delay the loss of respiratory function in patients with DMD, and the company announced yesterday that the results of secondary respiratory function endpoints corroborate the positive outcome for the primary endpoint results announced earlier. When compared to placebo in its phase III DELOS study, there is a delay in the loss of respiratory function when patients with DMD are orally administered Catena®/Raxone®.

The phase III, double-blind, placebo-controlled DELOS study randomized 65 DMD patients who were between 10-18 years old and were not using concomitant corticosteroids.

Read the full press release on the Santhera website.

Standardized operating procedures for mdx mouse model now
available in movie format in the Journal of Visual Experiments
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A comprehensive series of videos has been published in the Journal of Visualized Experiments showing how to perform functional tests in mdx mice following the TREAT-NMD SOP guidelines. The tests include the forelimb grip strength test (DMD_M.2.2.001), two hanging tests (DMD_M.2.1.004 and DMD_M.2.1.005) and treadmill running (DMD_M.2.1.001). The movies are accompanied by a journal publication (PMID:24747372).

View the movies and paper here alternatively contact the main author: Maaike van Putten

ECRD meeting report
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The 7th European Conference on Rare Disease and Orphan Drug Products (ECRD) took place in Berlin on 8-10 May 2014 at the Andel’s Hotel.

Over 700 delegates attended the event, organised by EURORDIS, bringing together patients and experts from across Europe to discuss the developments in the rare disease field. This year’s overarching theme was “The Rare Disease Puzzle: Bringing the Picture to Life”.  The theme highlighted the many developments that have been made over the last few decades, and stressed the need to move forward with a coherent and sustainable strategic plan.

The event was split into six themes addressing healthcare services, knowledge generation and dissemination, research, orphan drug development, policy making and issues beyond medical care. There was a strong presence from the neuromuscular community across these sessions, both through speakers and panel discussions. Professor Kate Busby was invited to speak about TREAT-NMD and how it has changed and evolved since conception. She also spoke about TACT and its importance in supporting the drug development pathway. This built on the pre-conference tutorial delivered by Nic Wells and Cristina Csimma, slides from which will be available in due course. Elizabeth Vroom and Pat Furlong discussed the experiences the Duchenne community has encountered with the regulatory authorities when it comes to orphan drug development, providing insight from our community to others experiencing similar challenges.

In addition to wealth of information presented and discussed during the conference there were hundreds of posters on display over the two days. Dr Catherine Bladen presented a poster on the TREAT-NMD SMA registries which was ranked in the top ten by the judges. This and all the posters can be viewed online at www.rare-disease.eu.

The next ECRD will take place in Edinburgh in 2016, with exact dates to be confirmed.

Update on TACT applications
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The TREAT-NMD Advisory Committee for Therapeutics (TACT) is pleased to announce that two applications were reviewed at the 9th TACT review meeting which took place on 10 May in Berlin, Germany.

-  Viral vector containing DNA coding for the human SMN protein; for treatment of 5q spinal muscular atrophy. Mimoun Azzouz, University of Sheffield, United Kingdom

-  TXA127 for the treatment of muscular dystrophies. Richard Franklin, Tarix Orphan LLC, Cambridge, Massachusetts, USA

This meeting was organised by TREAT-NMD and co-sponsored by Parent Project Muscular Dystrophy, Cure Duchenne and SMA Europe. The non-confidential summaries will soon be available on the TREAT-NMD website.

The 10th TACT review meeting will be held in Chicago, USA between 25– 26 October 2014.

Deadline for pre-applications is 30 June 2014.

Anyone wishing to submit a proposal for this meeting should contact the TACT secretariat via louise.johnston@ncl.ac.uk as soon as possible or visit the TACT section of the website for more details of the application process.

Italian Telethon seeks two outstanding scientists
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The Fondazione Telethon is providing two Career Awards to outstanding young scientists wishing to establish their independent laboratory in public or private non-profit Italian research institutions and investigate diseases of proven genetic origin. The award consists of a research grant plus the investigator’s salary for 5 years.

The successful candidates will join the Dulbecco Telethon Institute (DTI), a virtual institute whose members are given the title of “Telethon Scientists”. These talented scientists work on a broad range of topics but share the same principles of rigor and excellence in the pursuit of scientific research aimed at understanding, preventing and curing genetic diseases.

Interested applicants should apply to the competitive Call for Applications available on the Telethon website.

Application deadline is 18 July 2014.

Further information can be found here.

Myotonic Dystrophy Foundation
Fund-a-Fellow postdoctoral grant program
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The Myotonic Dystrophy Foundation (MDF) announced its 2014 Fund-a-Fellow postdoctoral grant program and is seeking applications. The Fund-a-Fellow program supports MDF's commitment to care and a cure for myotonic dystrophy (DM) by attracting new researchers to the field of DM research and increasing the knowledge and science available regarding myotonic dystrophy. In 2013 MDF expanded the list of scientific research endeavors eligible for fellowship support, including DM research efforts focused on improving care, treatment and support of the DM patient and the patient's family, as well as research focused on molecular biology and basic science.

MDF Fund-a-Fellow grants are US$100,000 each, disbursed over two years, and are awarded to post-doctoral students who have received doctoral degrees from accredited U.S. or international institutions within the past three years.

International applications are welcome with a submission deadline of Friday 5 September 2014 - 5pm PST.

Application forms and further information about this grant program can be found on the Myotonic Dystrophy Foundation website.

SMA Europe announces launch of €200,000 Clinical Trials Preparation Fund
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SMA Europe, which is an umbrella association of nine SMA organisations, agreed the establishment of a new clinical trials preparation fund at their recent annual board meeting in Munich. The decision was heavily influenced by advice from their Scientific Advisory Board which is composed of SMA experts from all over the world. At the meeting they identified a need for even greater transatlantic collaboration and an ability to respond quickly to specific bottlenecks as they emerge over the coming months.

To this end, a €200,000 fund, which is in addition to the Annual Research Call, will shortly be made available for projects that speed up the clinical trials process for potential new Spinal Muscular Atrophy treatments.

Please visit the SMA Europe website for further details of this funding opportunity.

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23rd May 2014
TREAT-NMD newsletter - 23rd May 2014