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30th June 2017
Confirmed Speakers for TREAT-NMD conference

TREAT-NMD are delighted to announce an impressive list of confirmed speakers and sessions for our upcoming conference which will take place 27-29 November in Freiburg, Germany.

Sessions include:

Emerging Treatment Strategies for NMD treatment. Markus Ruegg will present an exciting case study of a mouse model for CMD alongside other speakers presenting on SOPs, new treatments and gene therapy.

Non-drug treatments and innovative outcome measures for NMD - Bazeil van Englen will present results from the Optimistic study in DM1. Other topics in this session will include outcome measures, fatigue and exercise across NMD's

Regulatory Exchange matters - chaired by Annemieke Aartsma-Rus and Pavel Balabnov (EMA) this session will feature the patient perspective and a case study on nusinersen.

Commercialization and Health Technology Assessment - EURORDIS will be running this session.

Data integration and gene discovery - Hanns Lochmüller will present on data sharing and integration and RD-Connect using a CMS example. Omics, sequencing and gene identification will be covered in this session with examples from a wide range of NMD's

Biomarkers - Kevin Flanigan chairs this session and presents the lessons learned from dystrophin. Clinical trials, validations of biomarkers and genetic modifiers will also be presented in this session.

Standards of care - Thomas Sejerson will set out the current landscape of care guidelines for NMD's. Practical advice about developing care guidelines will be explained and EURO-NMD's plans for developing care guidelines will be presented.

Industry session - The conference will close with an industry session Kathryn Wagner (TACT Chair) will chair this session. We will hear directly from industry about their drug pipeline and how TREAT-NMD can support their work.

We are still developing our programme and speakers and you are track our progress on twitter as well as the conference website itself.

Our last conference was a complete sell out and we therefore recommend that register as soon as possible if you want to meet up with key stakeholder in the neuromuscular field and learn about many of the latest developments.

Spinal muscular atrophy: incidence and trial readiness -
new paper published
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Spinal muscular atrophy (SMA) is a progressive muscular disorder caused by mutations in the SMN1 gene. Since little studies have been performed into its epidemiology, a study was performed using multi-resources.

Firstly the incidence (proportion of newborns with SMA) was determined by questioning genetic laboratories in different countries about the number of positive SMN1 diagnoses from 2011 to 2015. This lead to enough response in 18 countries within whole Europe, where an incidence between ~1 in 3900 to16,000 newborns per year was found.

Secondly the prevalence (number of patients alive at a certain time point compared to the total population) of the number of patients really known, and thereby ready for research and clinical trials, was investigated by enquiring the CTSR (on 15 Dec 2015) and the patient registries (on 1 Sept 2015). The CTSR retrieved data from 42 countries and the TREAT-NMD patient registries from 29 countries (26 registries). This revealed large differences between countries in the relative amount of patients known, whereby by far the largest amount of registered patients lived in Europe. In general the trial ready population was around two to five times lower than expected prevalence.

Now that the first therapy for SMA, SpinrazaTM (nusinersen) , has recently been accepted and more therapies are being developed, the registry of patients becomes more and more important to ensure access to optimal care, new therapies and clinical trials.

The author would like to thank all participant to the study, especially the curators of the CTSR and of the patient registries in Argentina, Australia, Brazil, Bulgaria, Canada, China, Czech Republic and Slovakia, Denmark, Finland, Germany and Austria, Hungary, Italy, Lithuania, Mexico, the Netherlands, New Zealand, Norway, Poland, Russia, Serbia, Spain, Switzerland, Turkey, Ukraine, the United Kingdom and Ireland, and the United States

To read the article in full, click here.

TGDOC Update - SMA registry, initial guidance available.
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TREAT-NMD and the TGDOC chairs are working to harmonize the collection of registry data around the world. Following a successful workshop to explore adding data items to the TREAT-NMD global registry TGDOC chairs have produced an initial guidance document which describes the workshop and provides the list of recommended data items. Following this workshop we have identified three clear next steps:

1. A small working group is meeting to construct the wording of the data items and develop a data dictionary

2. The implementation will take place over the coming months with a plan for final implementation by the next TGDOC meeting in November 2017

3. A small number of registries are identified as a pilot group for the implementation of the first draft of the updated dataset in the immediate future.

In addition to this TREAT-NMD are working to create some registry standards which we will ask all TREAT-NMD registries to adhere to. This will include:

  • Disease specific registries (open for all patients, not drug specific)
  • Patient data ownership and academic curation / data stewardship
  • Alignment with TREAT-NMD recommendations for data items
  • Cooperation with existing national registries
  • Cooperation with patient organizations
  • Sharing set-up, content and data with TREAT-NMD – using established governance

For any questions about the work or to receive a full copy of the workshop report please contact Becca Leary

ENMC workshop deadline
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ENMC has a unique concept of facilitating and organizing workshops for experts in the field of neuromuscular conditions. Every month a group of 20 - 25 researchers, clinicians, patients and industry representatives, come together in a meeting venue in the Netherlands to exchange state-of-the-art knowledge of and experiences with a neuromuscular condition.

Amongst the main deliverables of these workshops are:

  • a full publication in the journal of Neuromuscular Disorder to disseminate workshop outcomes to other researchers and clinicians working in the field
  • a lay report on the ENMC website to inform patients and their families about what has been achieved at the workshop
  • networking and collaboration
  • define trial readiness and outcome measures
  • consensus about guidelines for diagnosis, therapy and care

The Next ENMC workshop application deadline is 15 September 2017. The forms to be completed for a workshop application can be downloaded. Incomplete applications and applications submitted after the deadline, will not be processed. If you want the Managing Director and the Research Director to preview your application on completeness and accurateness, please submit your application at least 2 weeks before the submission deadline.

First sponsor comes on board to support inaugural
Imaging in Neuromuscular Disease Conference
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As preparations for the inaugural ‘Imaging in Neuromuscular Disease Conference gather apace, we are pleased to announce that Solid Biosciences will sponsor the conference.

Based in Cambridge, Massachusetts, Solid Biosciences is a life science company focused on finding meaningful therapies for Duchenne muscular dystrophy (DMD). The company’s lead candidate, SGT-001, is an adeno-associated viral (AAV) vector-mediated gene therapy for which clinical trials are anticipated to begin in the second half of 2017.

Dr Valeria Ricotti, Associate Director of Research and Development said, "We are very pleased to sponsor the inaugural Imaging in Neuromuscular Conference in Berlin. MRI offers a valuable tool that enhances our understanding of the progression of this devastating disease and potentially can be helpful in monitoring response to therapy. We believe this conference will highlight the immense progress that has been made in this area."

Prof Volker Straub, chair of the Conference Programme Committee said, "We are extremely grateful for Solid's support of our event. Support from industry is vital in moving the MRI field forward. This conference will highlight crucial developments and advances in muscle imaging and show how it can be used to inform therapy development through clinical trials".

Standard registration is open so we encourage all those interested to register now.

The conference program will feature internationally-recognized keynote speakers highlighting developments and advances in all aspects of muscle imaging. At least 200 participants from the neuromuscular field are expected to attend. Key note speakers include: Andrew Blamire, Carsten Bonnemann, Pierre Carlier, Bruce Damon, Kieren Hollingsworth, Hermien Kan, Richard Lerski, Martin Meyerspeer, George Radda, Fritz Schick, Volker Straub, Gustav Strijkers, Giorgio Tasca, Krista Vandenborne and Felix Wehrli.

Standard registration is open from 6th June until 1st September. For information on sponsorship opportunities or any other questions please contact olav.veldhuizen@ncl.ac.uk

John Walton Muscular Dystrophy Research Centre seeks
research associate for PREFER study
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The John Walton Muscular Dystrophy Research Group based at the Institute of Genetic Medicine has a strong interest in research, diagnosis and management of neuromuscular genetic disease.

We are a partner in the IMI2 funded project PREFER and are tasked to carry out a case study into the patient preference in the rare neuromuscular disorder myotonic dystrophy type 1.

This case study will utilise a network of patient registries to collect data and work closely with partners from industry, academia, regulators and HTA bodies. The post would suit an individual with experience in clinical research and the drug development life cycle, a background in preference research would be beneficial. More information can be found on the Newcastle University website under the reference A75481R (IGM).

Masters in Neuromuscular diseases at UCL
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UCL Institute of Neurology (London, UK) are offering a masters course in neuromuscular diseases.

This master’s course is established at the heart of clinical and scientific excellence of neuromuscular diseases speciality at UCL, students get taught by leading experts get to conduct their own piece of research. The curriculum of the course covers topics on all aspects of the neuromuscular system and its diseases. Students will understand the anatomy, physiology of neuromuscular system and what pathological changes occur in these elements in a range of neuromuscular diseases. Genetic advances, basic and clinical research aspects, development of therapeutics and treatment options are also taught to all students in the form of formal lectures, tutorials and practical sessions.

MSc and MRes Students are expected to undertake practical research in their fields of interest. The Institute of Neurology has a range of high quality clinical and basic science research projects in which students can participate, producing their own set of results while being supervised by leading clinical and basic science experts. You can read about further information about research projects and hear examples from our current students for a laboratory based and a clinical project here. This programme is built on the expertise available at the MRC Centre for Neuromuscular diseases, a well-established internationally renowned clinical and scientific research centre of excellence. The education that we provide is aimed at professionals in medicine and scientists wishing to specialize in neuromuscular diseases.

For more information or to apply visit the website.

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30th June 2017
TREAT-NMD newsletter - 30th June 2017
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