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29th October 2012
Become a member of the TREAT-NMD Alliance

We have been delighted with the number of applications received since we invited people with an interest in NMDs across the world to become members of the TREAT-NMD Alliance. Our membership now stands at 200. Approved members will be receiving their membership certificates shortly and a full list of members can now be found on the TREAT-NMD website.

Report from the TREAT-NMD Future Directions Meeting, Perth, Australia

The meeting was an opportunity for many of the TREAT-NMD Executive Committee, Task Force members and other interested colleagues to meet in-person for the first time since the establishment of the TREAT-NMD Alliance in January 2012. The agenda was focussed on how TREAT-NMD could be used as a model for further international collaborations. Since 2007, funding has been secured for projects that have utilised the TREAT-NMD model (such as NMD-Chip, BIO-NMD and CARE-NMD). Recently using the TREAT-NMD model, grants have been approved within the last Health Call (FP7) of the European Commission (Neuromics and RD-Connect). Over the past 12 months funding has also been secured for some TREAT-NMD core activities. However there is scope to add further activities and funding to utilise the TREAT-NMD model for international collaboration.

The lack of global funding opportunities for TREAT-NMD partners was discussed. Hopefully, the new IRDiRC initiative will offer new funding possibilities for these collaborations. The TREAT-NMD model of developing collaborative networks could be a way forward to support projects on data sharing.

We plan to hold another face-to-face meeting in 2013. We will keep you informed of these plans as they develop.

Registry curators meet in Istanbul
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The sixth annual patient registry curator meeting and fifth oversight committee meeting took place from 29-30 September in Istanbul, Turkey and was attended by 67 participants from 21 countries.

The curator meeting updated participants on a range of issues, including new developments in the TREAT-NMD Alliance (Hanns Lochmüller, Chair of the TREAT-NMD Alliance Executive Committee), “New neuromuscular large scale research projects” (Volker Straub, Newcastle University, UK) “Recently published research results on DMD” (Holly Peay, DuchenneConnect) and “Developments in the Japanese neuromuscular field” (En Kimura, National Center of Neurology and Psychiatry, Japan). Various case studies outlining the utility of patient registries for neuromuscular disorders were also presented.

The TREAT-NMD Global Database Oversight Committee (TGDOC) met to discuss important issues relating to registry related studies and regular housekeeping issues. A vote for a new Chair and Chair-elect was held after the meeting and by unanimous approval Dr Jan Verschuuren, Leiden University Medical Centre, and Dr Hugh Dawkins, Government of Western Australia, Department of Health will be the new Chair and Chair-elect respectively. We wish them well in their new positions! Hanns Lochmüller and Christophe Béroud will step down as co-chairs but will remain on the committee as past-chairs.

The full meeting report is available here.

Save the Date! CARE-NMD International Conference on DMD
18-19 April 2013, Budapest
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The CARE-NMD project is pleased to announce a major international conference on Duchenne muscular dystrophy (DMD) on 18-19 April 2013 at the Hilton Westend in Budapest.

CARE-NMD, an EU-funded project led by Dr Janbernd Kirschner, has been evaluating care and quality of life in DMD, and disseminating best-practice care information. With over 1070 responses to the patient survey, the conference will provide a forum for the results and their implications for DMD care in the future to be discussed.

With a particular focus on care for people living with DMD, the two-day conference will cover a range of topical themes including:

- The DMD Standards of Care: creation, dissemination, open questions and future development
- Evaluating care for DMD: the CARE-NMD project and international care surveys in the US, Japan and Australia
- Quality of life in DMD: CARE-NMD survey results and patient, family and professional perspectives
- Future therapies and the regulatory perspective on DMD treatments
- International networks and care for rare diseases

Speakers will include representatives from patient organisations, academic and clinical experts and policymakers.

Confirmed speakers so far include:

- Professor Kate Bushby (Newcastle University), lead author of the DMD Standards of Care published in The Lancet Neurology
- PD Janbernd Kirschner (Universitätsklinikum Freiburg), leader of the CARE-NMD project
- Dr Jes Rahbek (Rehabiliterings Center for Muskelsvinds), neuromuscular rehabilitation specialist

Further details, and registration information, will be announced on the CARE-NMD website and in the TREAT-NMD Newsletter.

Act now to protect the EU research budget!
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The Initiative for Science in Europe (www.initiative-science-europe.org) is coordinating a call for action to protect the EU research budget from cuts and is distributing the following request to sign a petition.

"The discussions at the next summit of the European Union heads of state or government, which is scheduled for 22-23 November, will be decisive in determining the EU research budget for the next seven years.

Several Member States are demanding severe cuts on the total EU budget, meaning research will have to compete with other policy priorities. This is a time when we, the scientific community, need to act together and make our case to protect research funding, including that of the European Research Council (ERC), from cuts. Decisions will be prepared in discussions among politicians at the national level. All of us must look for opportunities to affect these decisions and send a strong signal to the heads of state or government.

An open letter signed by European Nobel laureates has been published in top European newspapers this week. The impact of this letter will be increased if it is followed by a mobilization of the national scientific communities. To keep the momentum going, an online petition has been launched:


We ask you to consider signing it and to encourage all your colleagues to do the same.

Every single signature counts!"

Myotubular Trust - International call for projects
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The Myotubular Trust is looking to fund further projects that will help find a cure and / or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant), focusing on research that would not generally be funded by public or industrial funding sources.

This call will be open to research bodies internationally.

They will be looking for the following types of application:

- A project grant applied for by a Principal Investigator to fund a project for 2-3 years duration to be carried out by a Post Doctoral researcher, or PhD student
- A Myotubular Trust fellowship – basic science (3-4 years duration), where the scientist has identified a group that he or she wants to work with. Award is made to a named individual

In particular they would like to encourage the application of new technologies to research into myotubular myopathy, which may involve collaboration between different medical disciplines and / or different research institutions. They are also willing to consider applications which involve joint funding with other organisations.

Further information about this call can be found in the opportunities section of the TREAT-NMD website or by visiting the Myotubular Trust website.

Job opportunity with EURORDIS in Paris:
Registry and Biobank Projects Manager (RBPM)
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Registries, Biobanks, Clinical bioinformatics and –omics

An exciting new opportunity is available in the Paris offices of EURORDIS, the European Organisation for Rare Diseases.

The main scope of the post is the management of activities related to EURORDIS’ participation to the projects EPIRARE and RD-CONNECT focused on patient registries, biobanks, clinical bioinformatics, and –omics in the field of rare disease research.

The RBPM will be responsible for coordination of the above mentioned projects internally, with staff and members, and externally, with all partners and project coordinators, as well as for the achievement of milestones, deliverables and deadlines, writing reports and managing budgets in close contact and under the supervision of the Scientific Director. Location: EURORDIS Headquarters Paris: Plateforme Maladies Rares, 96 rue Didot, Paris 75014, France.

Deadline for applications: 30 November 2012

Click here to download the job description.

If you are interested in applying for this position, please send your letter of motivation and CV in English to: rdconnect@eurordis.org

New web-based diagnostic tool launched
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Neuromuscular diseases, including muscular dystrophy, individually are rare. Yet, pediatric clinicians frequently encounter children with motor delay and need an approach to identify serious causes. Highlighting this need, the average age at diagnosis of Duchenne muscular dystrophy is approximately 5 years, while parents recognize the earliest symptoms around 2 and a half years. This diagnostic delay has not changed in two decades.

The National Task Force for Early Identification of Childhood Neuromuscular Disorders, in collaboration with the United States Centers for Disease Control and Prevention (CDC), has developed a new web-based diagnostic tool to assist providers in primary care, rehabilitation medicine, and physical and occupational therapy in the evaluation of children with motor delay, including identification of early signs and symptoms of neuromuscular disorders.

Childmuscleweakness.org focuses on evaluation of children between 6 months and 5 years of age. Neuromuscular diseases that might present in this age range include (but are not limited to) spinal muscular atrophy (SMA) Types 2 and 3, congenital muscular dystrophies, limb-girdle muscular dystrophy, Charcot-Marie-Tooth disease, some presentations of myotonic muscular dystrophy, Duchenne and Becker muscular dystrophy, and metabolic muscle diseases.

If you have any questions or comments please email info@childmuscleweakness.org alternatively for further information please visit the Child Muscle Weakness website.

ENMC accepting applications for workshops
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The deadline for sending in applications for ENMC workshops to be conducted in the second half of 2013 is 1 March 2013.

The ENMC provides funding and support for the organisation of expert workshops and disseminates the outcomes through publication in the scientific journal “Neuromuscular Disorders”. Applications are invited from researchers wishing to gather together a group of experts to discuss a particular topic.

The forms to be completed for a workshop application can be downloaded from the ENMC website www.enmc.org. If you have any questions, please do not hesitate to contact the ENMC office.

Submission deadline 1 March 2013

Regulators meet to focus on clinical trials involving children
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A meeting involving regulators from Europe (European Medicine Agency), USA (Food and Drug Administration) and Japan, but also industry, clinicians and researchers took place in London on 26-27 September. The meeting focused on the specific issue of clinical trials in children with a dedicated session focused on trials in children with rare diseases. Trials involving children are difficult not only because they involve children, for which special legislation exists, but because of the limited number of potential participants. This poses challenges for the development of treatments for children with rare diseases, and therefore affects a large number of neuromuscular patients. The EMA indicated that they are aware of the specific issues and special challenges that face drug development in this group and offers opportunities to trial sponsors to discuss specific hurdles at an early stage. They are also working hard on developing methods to allow trials in smaller numbers of patients, while maintaining high quality data and safety.

Genethon awarded 43rd Prix Galien France
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The 43rd Prix Galien France has recognized Genethon for its innovative treatments of rare diseases using gene therapy by awarding it the prize in the category of “Medicines destined for rare diseases – cell therapy and gene therapy.”

Created in 1990 by a patient association, the AFM-Téléthon, and 90% financed by donations from the French Téléthon, Genethon is dedicated to the development of gene therapy treatments for rare diseases - from their discovery through production and through their preclinical and clinical development. This is the first time that a non-profit organization, created by a patient association, has received the Prix Galien France.

We would like to take this opportunity to congratulate Genethon on their well deserved award.

Riding the Wave NMD 2012 - Conference report
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On 4-6 October the biennial joint conference of the Duchenne Foundation Australia and Muscular Dystrophy Queensland took place at Bond University, Gold Coast, Australia. The meeting was aimed at neuromuscular disorder patients and family members whilst also being open to carers, clinicians and researchers. The focus was on advances in research and therapies for patients with inherited neuromuscular disorders.

This year's meeting featured many world renowned researchers and clinicians who also attended the World Muscle Society meeting in Perth 8-14 October. Over 300 families participated in the meeting, which featured plenary key note lectures from Kathy North, Katie Bushby and Ken Harvey as well as disease specific sessions on Duchenne muscular dystrophy, spinal muscular atrophy, congenital onset muscle diseases and limb girdle muscular dystrophy.

The meeting also included talks on the psychological aspects of neuromuscular disorders and learning issues. Finally, participants had the opportunity to see the award winning documentary “Duchenne with a future – the power to live”, followed by a Q & A session with one of the producers, Jos Hendriksen.

European public consultation on paediatric regulation
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The European Commission has published a public consultation on the experience acquired with the Paediatric Regulation.

The deadline for responses is 28 November 2012.

Studies show that in 2007 over 50% of the medicines used for children might not have been tested for use in this age group. The lack of suitable, authorised medicinal products to treat conditions in children can be explained by the fact that pharmaceutical companies frequently do not carry out the necessary research and development to adapt medicinal products to the needs of the paediatric population. The Paediatric Regulation (EC/1901/2006) entered into force in 2007 with the key objectives:-

- to ensure high-quality research into the development of medicines for children
- to ensure, over time, that the majority of medicines used by children are specifically authorised for such use
- to ensure the availability of high-quality information about medicines used by children

Information gathered from this consultation will help the European Commission in drafting an interim report which will be seen as a 'first glimpse of the experience gained' ahead of the main report which is due for publication in 2017.

Please download the PDF for further details.

Cardiac Care Webinars
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PPMD are hosting a series of webinars on various aspects of cardiac care for people with Duchenne Muscular Dystrophy. The second webinar in the series will be held on 28 November at 13.00 EST and will deal with interventions, including topics such as when to intervene and what medication to use. The third webinar will be held on 29 January 2013 at 14.00 EST and will focus on cardiac care for adults with discussion on issues such as the transition to adult services, heart failure management, and devices.

More information can be found on the PPMD website or contact Kathi Kinnett, Director of Clinical Care, PPMD.

Upcoming meetings
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29th October 2012
TREAT-NMD newsletter - 29th October 2012
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