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31st October 2014
Newly formed Canadian Neuromuscular Diseases Network
holds inaugural meeting

On 16-17 October 2014 the newly formed Canadian Neuromuscular Diseases Network held its inaugural meeting in the beautiful Rocky Mountains of Alberta at the world renowned Banff Centre.

Seventy five people were in attendance including adult and pediatric clinicians from specialty neuromuscular clinics from across Canada; basic science researchers with interests in neuromuscular diseases from across Canada; representatives from industry; and administrators and patient representatives from Muscular Dystrophy Canada.

Attendees were challenged to present a brief synopsis of their current work in basic science, clinical research, industry or clinical care in short talks ranging from 4-7 minutes.  A total of forty seven speakers accepted this challenge with remarkable results!

The group was also provided with an update on the activities of the Canadian Neuromuscular Disease Registry and Dr. Hanns Lochmuller shared the experiences of TREAT-NMD both in building the network and also transitioning TREAT-NMD beyond the original funding.

Finally, the attendees were divided into 6 task force groups to address the future plans and action items for the Network around the following themes: Clinical Care, Research, Education, Engagement, Commercialization and Knowledge Translation.

Funding for the Network has been provided until 31 March 2017 by the Canadian Institutes of Health Research, Institute of Musculoskeletal Health and Arthritis and Muscular Dystrophy Canada.

Next year’s meeting is planned for 23-26 Sept 2015 in Ottawa in conjunction with the 3rd International Conference on Neuromuscular Biology, Disease & Therapy.  If you are interested to learn more about this meeting please contact the conference organizing team at OttawaNMD2015@ohri.ca.

More information on the Canadian Neuromuscular Diseases Network can be obtained by contacting Megan Johnston, National Director of Operations, at 403-210-7303 or megan.johnston@ucalgary.ca

TREAT-NMD Alliance Chair extension and charter amendment
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We are pleased to announce that the term of office of the current Chair (Annemieke Aartsma-Rus) has been extended for an additional year.

In accordance with the Charter, the term of office of the Chair may be extended for an additional year by a two thirds majority vote of Executive Committee members. A vote to approve the extension of the term took place earlier this month.

Also, a vote took place on the revisions specific to Article IV of the Charter (Executive Committee) to bring the Charter into line with the current membership numbers. This has been approved by the Executive Committee as well. The amended charter can be found here.

Japanese Myotonic Dystrophy registry launched
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We are delighted to announce that the Japanese Myotonic Dystrophy (DM) registry was launched on 2 October 2014.

As part of the international TREAT-NMD initiative, a national self-reported and professional-reported registry for Japanese DM patients has been established in collaboration between Osaka University, National Center for Neurology and Psychiatry (NCNP) and expert neuromuscular clinical centers.

The registry is a part of the Registry of Muscular Dystrophy in Japan known as Remudy. Visit the Remudy website for further details (in Japanese) alternatively contact: DM-touroku@neurol.med.osaka-u.ac.jp.

Exon skipping COST - workshop highlights
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Exon skipping COST Action BM1207 which aims to advance the development of antisense-mediated exon skipping for rare diseases has two training events organised for 2015.

The first event will take place in Leiden, Netherlands and is sponsored Duchenne Parent Project Belgium. This training school, which will take place in April 2015, has been designed with early stage researchers in mind and will focus on how to present they own work to patients and families in a clear and unambiguous way both verbally and nonverbally. Application deadline is 15 December 2014.

The second event, an Expert Patient and Researchers EURORDIS summer school (ExPRESS) is organized with EURORDIS and will take place 1-5 June in Barcelona, Spain. In this summer school Academics and patient representatives will learn about the regulatory processes of drug development and marketing approval in Europe with a strong focus on drug development for rare diseases. The course is highly recommended for anyone who wants to know more about what is required to develop a therapy to clinical implementation. Application deadline is 8 December 2014.

Please go to the COST Action Website for further information about these two events.

Launch day approaches for the
John Walton Muscular Dystrophy Research Centre
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The Newcastle based TREAT-NMD Secretariat is one part of a larger neuromuscular focused team which has steadily grown at the Institute of Genetic Medicine, Newcastle University and consists now of almost 100 people.

We are delighted to announce that our 'Newcastle Muscle Team' will be officially adopting its new identity as the John Walton Muscular Dystrophy Research Centre and we would like you to join us on Monday 24 November at the Centre for Life in Newcastle to help us celebrate. Registration is still open and the day will consist of a number presentations on the excellent science being currently undertaken at the centre and there will also be presentations from distinguished alumni.

Please go to the registration website to find out more about the day itself and also to learn more about the person behind our new name.

Second partner meeting COST Action MYO-MRI in Berlin
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October saw the second partner meeting of the COST programme funded MYO-MRI project which took place in Berlin, Germany. The meeting, which was attended by around 60 MRI experts, including MRI physicists, clinicians and computer scientists from across the world, took place just prior to the annual World Muscle Society Congress, also taking place this year in Berlin.

MYO-MRI is a 4 year funded programme on the application of novel magnetic resonance imaging and spectroscopy techniques (MRI and MRS) in neuromuscular disease. These non-invasive tools are showing increasing promise in the assessment of neuromuscular patients, but progress has been hindered by the rarity of the conditions and the lack of options for pooling data from different groups. Four Working Groups within MYO-MRI will look to overcome the main hurdles to rollout of MR techniques by sharing expertise and data, validating protocols across platforms and exploring the potential of MRI and MRS as helpful diagnostic tools and quantitative outcome measures in NMD clinical trials.

COST (European Cooperation in Science and Technology) does not fund research but it funds networks of scientists and researchers across all science and technology fields. These networks, called 'COST Actions', promote international coordination of nationally-funded research.

The second meeting saw the 4 Working Groups build on the work that started earlier this year, when the partners met in Milan, Italy in May. The meeting in Berlin was also attended by invited speakers from the US and Chile as well as Early Stage Researchers (ESRs) who had undertaken Short Term Scientific Missions (STSM) funded by MYO-MRI. STSMs are important activities of the MYO-MRI project as they support ESRs in visiting a MYO-MRI partner institution of their choice to undertake a specific piece of work. MYO-MRI has funded four STSMs in its first year, and will look to support another four to six in 2015. STSM application guidelines and reports can be found here.

The first MYO-MRI training school will take place at the Institut de Myologie in Paris, from the 16–18 June 2015. Day one of the three-day training school will provide a general overview of the MYO-MRI programme, with the following two days being dedicated to the Working Groups. Lectures will be given by the Working Group leaders and invited speakers. Participants can register their interest here. The programme will be finalised by mid-November, after which the application process will be opened.

Workshop report on measuring clinical effectiveness
of medicinal products for the treatment of DMD
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In June 2013 TREAT-NMD organised a workshop at the Wellcome Trust head office in London. The aim was to discuss issues such as natural history, outcome measures, efficacy measurements, animal models and clinical study design as part of the coordinated response to the public consultation by the European Medicines Agency (EMA) on the draft guidelines for clinical investigation of medicinal products in Duchenne and Becker muscular dystrophy (DMD/BMD).

Highlights of the report include: what is clinically meaningful and how to measure this in DMD, methods of efficacy measurement (strength versus function), animal models and biochemical outcome measures along with strategy and design of clinical studies.

The workshop attracted over 60 participants from 9 countries representing patients, academics, industry along with experts involved with the production of the draft EMA guidelines.

A report from this workshop has now been published and is available here.

Article highlights impact of integrated Omics on patients
with rare diseases
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The impact of the integrated omics technologies on patients with rare diseases is the focus of the article recently published in Informa Healthcare.  Omics technologies including genomics, transcriptomics, proteomics, metabolomics and pharmacogenomics are of increasing relevance in rare disease research. Over 80% of rare diseases have a genetic component, and for this reason particular emphasis has been placed on the prospects offered by the rapid development of next-generation genomic technologies such as whole-exome (WES) and whole-genome sequencing (WGS).

The article aims to highlight how the emergence of omics technologies and the development of integrated ‘systems medicine’ approaches might offer ways to overcome research challenges in rare disease and allow patients to ultimately reap the benefits of better scientific understanding of their condition.

Read the full article here.

EMA launches pilot project to integrate patients’ unique
and critical views into CHMP discussions
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The European Medicines Agency (EMA) has launched a pilot project to involve patients in the assessment of the benefits and risks of medicines in its Committee for Medicinal Products for Human Use (CHMP). The CHMP is responsible for conducting the initial assessment of medicines for which a Europe-wide marketing authorisation is sought. Assessing whether the benefits of a medicine outweigh its risks lies at the heart of this authorisation process.

The EMA is committed in supporting the notion that listening to patients enriches the scientific assessment of a medicine with new ways of thinking about benefit and risk from the patient perspective. This pilot project marks the next step in bringing patients’ views and values to the assessment of medicines throughout their lifecycle.

“As patients live with their condition on a day-to-day basis, their views on the therapeutic effect of a medicine and its impact on their quality of life - particularly when these are balanced against the risks - may differ from those of other stakeholders,” says Guido Rasi, EMA Executive Director. “Involving patients in CHMP discussions brings the patients’ voice into the decision-making process and ultimately contributes to the safe and rational use of medicines.”

This pilot project is particular relevant from the rare disease patient perspective. The first medicine to be included in the pilot project contains the active substance afamelanotide. It is intended for the treatment of erythropoietic protoporphyria (EPP), a rare genetic blood disorder which causes intolerance to light. Currently there is no authorised medicine for this condition and there are between five to ten thousand patients worldwide affected by EPP.

Download further information in PDF format here

Or find out more online

OPTIMISTIC trial recruits 100th patient
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The ongoing OPTIMISTIC trial in myotonic dystrophy type 1 has recruited its 100th patient just five months after the first one was recruited. There are three trial sites currently recruiting, Munich (Germany), Nijmegen (Netherlands) and Newcastle (UK), with an additional site in Paris (France) opening soon.

The study is trialling a combination of cognitive behavioural therapy (CBT) and exercise as a treatment to increase activity and improve quality of life in adult patients with myotonic dystrophy type 1. The study is funded through the European Commission’s 7th framework programme and will continue until November 2016. This is the largest trial with intervention to be conducted for myotonic dystrophy in Europe and is collecting important information on outcome measures and biomarkers helping to improve the “trial-readiness” of the population. This includes detailed skeletal and cardiac MRI assessment along with genetic analysis of variant CTG repeats. In addition any remaining samples collected as part of the study are being stored in the Newcastle Biobank for Research of Neuromuscular Diseases- where they will be available for future research.

Coordinator Professor Baziel van Engelen from Radboud Medical Centre in Nijmegen will meet with other investigators in Glasgow this November to share their experiences so far and see how they will work towards the next milestone and reach the recruitment target of nearly 300 patients.

More information about the study can be found on the website www.optimistic-dm.eu.

Myotonic Dystrophy Foundation seeks new Research Director
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The Myotonic Dystrophy Foundation (MDF) seeks a full-time Research Director to lead the development and implementation of the Foundation’s research agenda while positioning MDF as a knowledge center and resource for myotonic dystrophy (DM) care and treatment development science.

Serving as the face of MDF’s research initiatives, the Research Director will work with the MDF Executive Director, Board of Directors and Scientific Advisory Committee (SAC), as well as other key MDF stakeholders, including the Myotonic Dystrophy Clinical Research Network, academic research institutions, industry and governmental partners, funders and other non-profit organizations to develop, implement and manage the Foundation’s research agenda.

Deadline for applications application is Friday 14 November 2014.

Find out more about this role

Find out more about the Myotonic Dystrophy foundation

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31st October 2014
TREAT-NMD newsletter - 31st October 2014
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