28th November 2014
John Walton Muscular Dystrophy Research Centre
is officially launched!

Monday 24 November 2014 saw the official launch of the John Walton Muscular Dystrophy Research Centre at Newcastle University with a celebratory day of distinguished speakers and excellent science. The launch of the Centre represents the culmination of more than 50 years of excellence in muscular dystrophy research and care at Newcastle University and in the Newcastle upon Tyne Hospitals NHS Foundation Trust. The new research centre will help to further improve work at the forefront of cutting-edge endeavours to better understand muscle disease, so improving care and treatment for patients.

The research centre has been renamed in honour of Lord John Walton, the world renowned expert in muscular dystrophy and related neuromuscular conditions. John was awarded a Life Peerage in 1989, then becoming Lord Walton of Detchant.

John Walton’s work in the 1950s was a milestone in the classification and description of muscular dystrophies as different entities. His landmark paper with Professor Nattrass in 1954 truly changed the research and diagnostic landscape for muscle disease.

About the John Walton Muscular Dystrophy Research Centre

Newcastle University has a long history as a centre of international excellence in muscular dystrophy diagnosis, care and research. Made up of around 80 people, including the TREAT-NMD Secretariat, the Centre takes a collaborative and multidisciplinary approach, both within the team and with other leading experts around the world. Genetic neuromuscular disease includes some very rare conditions and it is through establishing these partnerships that the biggest strides towards improving diagnosis, care and treatment for patients can be made.

The John Walton Muscular Dystrophy Research Centre is part of the MRC Centre for Neuromuscular Diseases and the team are led by Professors Kate Bushby, Hanns Lochmüller and Volker Straub. The Centre also has many areas of collaboration and support with Newcastle upon Tyne Hospitals NHS Foundation Trust.

Launch of the Serbian Neuromuscular Disease Network
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The newly formed Serbian Neuromuscular Disease Network, NMD-SerbNet, was inaugurated on 1 November 2014 during SERBORDISinn and the 2014 GoldenHelix Symposium "Genomics of Rare Diseases" held in Belgrade, Serbia. Several institutions have joined forces to collaborate in the network including, Clinic for Neurology and Psychiatry for Children and Youth (Faculty of Medicine, University of Belgrade), Neurology Clinic (Clinical Center of Serbia, Faculty of Medicine, University of Belgrade), Clinical Hospital Center Zemun, Center for Human Molecular Genetics (Faculty of Biology, University of Belgrade), Institute of Human Genetics (Faculty of Medicine, University of Belgrade) and Institute for Molecular Genetics and Genetic Engineering (University of Belgrade). Adult and pediatric clinicians, and basic science researchers commit themselves to improve diagnosis, research and therapy of neuromuscular disorders in Serbia.

They gave a brief overview of the current status of diagnosis of neuromuscular diseases in Serbia and presented diagnostic procedures they apply (including genetic testing and muscle biopsy), patient registries (DM, DMD & SMA), biobank, as well as research activities. Prof Hanns Lochmüller attended this event and gave them full support on behalf of the TREAT-NMD Alliance.

The main goal of NMD-SerbNet is to become an integrated platform for neuromuscular diseases in Serbia through the synchronization of activities and systematic connection of detailed clinical and genetic information, biomaterial availability and research datasets related to Serbian patients. By increasing the number of neuromuscular diseases fully diagnosed in Serbia, engaging with other Serbian clinicians and researchers, and strengthening the links with patient organizations NMD-SerbNet will ultimately bring benefit to patients suffering from these disabling diseases.

More information related to the NMD-SerbNet, Serbian patient registries, available genetic tests and biomaterial, and ongoing research activities can be obtained by contacting Snezana Kojic at snezanakojic@imgge.bg.ac.rs whilst the network website is under construction.

EMA to host workshop on exon skipping
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The European Medicine Agency (EMA) will host a workshop on developing exon skipping therapies for Duchenne muscular dystrophy, organized by the COST Action BM1207 and SCOPE-DMD projects. The meeting will take place on 29 April 2015 and is a follow up to the “Antisense oligonucleotide therapy development for Duchenne muscular dystrophy“ meeting which was organized by TREAT-NMD and hosted by EMA in 2009.

The workshop will be an open forum discussion on the regulatory and translational challenges of developing exon skipping therapies for Duchenne and will involve patient representatives, regulators, academics, clinicians and industry representatives.

If you are interested in participating in this workshop, please send an email to Annemieke Aartsma-Rus.

Exon skipping COST - workshop highlights - book now!!
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The Exon skipping COST Action BM1207, aiming to advance the development of antisense-mediated exon skipping for rare diseases, has two training events organized for 2015. These workshops are also open to people not involved in the COST Action!

The first event will take place in Leiden, Netherlands and is sponsored Duchenne Parent Project Belgium. This training school, which will take place 22-24 April 2015, will focus on how to present research work to patients and families in a clear and unambiguous way, both verbally and non-verbally. Professional training from behavioural scientist and a hands on workshop will allow attendees to improve the way they present their work to patients and parents and the general public. Participation is free of charge and travel and hotel costs can be covered by a stipend.

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. 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 and its clinical implementation. A stipend towards travel and hotel costs is can be applied for.

Application deadline is 8 December 2014.

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

Greater EU collaboration needed to combat rare diseases
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Physician and Member of the European Parliament, Cristian-Silviu Buşoi, argues in Parliament Magazine, that clinical trials in rare diseases need to be carried out at European level to maximise their effectiveness.

Rare diseases, characterised by their low prevalence, affect between six and eight per cent of the population in Europe, this represents between 27 and 36 million people. The challenges posed by rare diseases, including a limited number of patients, scarcity of relevant knowledge and expertise, and the lack of specific health policies for rare diseases translates into delayed diagnosis and difficult access to treatments and care - despite the fact that some rare diseases are compatible with a normal life if diagnosed early enough and properly managed.

There are currently only a few key policy documents establishing a political framework for action in the field of rare diseases and orphan medicines at European level. Clinical trials, one of the biggest challenges, would need to be carried out at European level to maximize their effectiveness, said former parliament's internal market and consumer protection committee opinion rapporteur on clinical trials.

Read the full article on the Parliament Magazine website.

Patient registry curators from across the world meet in Leiden
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The seventh annual patient registry curator meeting and oversight committee meeting took place 3-4 November in Leiden, the Netherlands. The meeting was attended by 68 participants from 30 countries.

The curator meeting which took place on Monday 3 November updated participants on a range of issues such as: TREAT-NMD Alliance and patient registries'  activities, the Care and Trial Site Registry, RD-Connect and the recent registry related publication on DMD. Work on the potential role of the TREAT-NMD registries in post marketing surveillance was also discussed. Various case studies outlining the utility of patient registries for a range of neuromuscular disorders were also presented during the meeting. This included: GNE Myopathy Registry, Myotonic Dystrophy Registry, Global FKRP Registry, FSHD Registry and Myotubular Myopathy Registry. The last session of the day was devoted to patient and ethical issues, with the main focus being clinical trials and expectations.

As a follow up to the discussions at the meeting two webinars about the planned post marketing surveillance platform will be organised in January (14 January and 21 January 2015). Further information about this will be in the December newsletter.

Patient organizations collaborate on shared objectives
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Recent advances in the scientific understanding of rare diseases have underscored the need for patient advocates in the EU and US to work together to promote public policies that are important to patients on both sides of the Atlantic. That is why the two leading rare disease patient organizations - the national organization for rare disorders (NORD) in the US and the European organisation for rare diseases (EURORDIS) in the EU - joined forces a few years ago to collaborate on shared objectives.

Find out more about this collaboration.

Update on Neuromuscular disorders
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This clinical course concentrates on childhood and adult neuromuscular disorders with an emphasis on clinical cases, natural history and management. The four day course is designed for specialists with an interest in neuromuscular disease; the first two days concentrating on paediatric neuromuscular disorders and the latter two days on adult neuromuscular disorders.

This established paediatric and adult course is now in its eighth year.

Further details about the course and how to register can be found on the TREAT-NMD website.

TACT update
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The TREAT-NMD Advisory Committee for Therapeutics (TACT) reviewed three applications at the 10th TACT review meeting which took place between 25-26 October 2014 in Chicago, USA:

-  Seth Porter, FibroGen Inc, San Francisco, USA:  Clinical trial of FG-3019 in patients with Duchenne muscular dystrophy
-  Gloria Vigliani: Naproxcinod for the treatment of Duchenne muscular dystrophy
-  Suyash Prasad, Audentes Therapeutics Inc, San Francisco, USA: Systemically delivered AAV8 gene therapy for X-linked myotubular myopathy (XLMTM)

Following the face-to-face review meeting, TACT reviewers will generate detailed reports to the applicants within 6 weeks.  Non-confidential report summaries, developed in collaboration with the applicant, will be available via the TREAT-NMD website within 8 weeks following the meeting.

TACT would once again like to thank Parent Project Muscular Dystrophy, Cure Duchenne and Myotubular Trust for co-sponsoring this meeting.

With regards to future meetings, the 11th TACT review will take place in Dublin, Ireland between 28-29 March 2015. Application deadlines are as follows:

-  Pre-application: December 2014
-  Full application: January 2015

Anyone wishing to submit a proposal 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.

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28th November 2014
TREAT-NMD newsletter - 28th November 2014