Newsletter - July 2018

Neuromuscular Summer School 2018 - Report

Neuromuscular Summer School 2018 - Report  

The first Neuromuscular Translational Summer School was devised and developed by Professor Annemieke Aartsma-Rus (LUMC, Netherlands and Newcastle University, UK), Silvere van der Maarel, (LUMC, Netherlands) and Dr Teresinha Evangelista (Newcastle University, UK) to address the specific aspects of the established translational pathway in clinical trials. Fourteen experts from across Europe helped deliver this ground-breaking course which took place in Newcastle, UK 2-6 July 2018.

The fifteen attendees of this week-long course came from many varied backgrounds within the neuromuscular community including researchers, clinicians, patient registry curators and the pharmaceutical industry. This mix of backgrounds enabled many fruitful and meaningful discussions to take place in a dynamic yet fully inclusive environment.

The course was split into three sessions with the first entitled “Translational Lifecyle”. Annemieke Aartsma-Rus provided an all-important overview of the translational pathway from bench to bedside and served as a foundation on which the rest of the course was built. Following this, Professor Volker Straub (John Walton Muscular Dystrophy Research Centre, UK) discussed the benefits standardizing studies preclinical research environment. Violeta Stoyanova-Benninska then demonstrated to the school how the regulatory system works.

The first day then concluded with a mock TACT review. Established in 2010 the TREAT-NMD Advisory Committee for Therapeutics (TACT) has offered world-leading advice on over 50 therapy development programmes from industry and academia. Attendees took part in a lively and topical debate touching upon the use of MRI and other procedures in a hypothetical drug review scenario which was chaired and co-chaired by Annemieke Aartsma-Rus and Cathy Turner (Newcastle University, UK).

Session two called “Clinical Trials”, started with Dr Michela Guglieri (Newcastle University, UK) discussing the ‘tools of the trade’ needed to ensure a clinical trial is conducted successfully. The value of developing and using meaningful outcome measures was then discussed by Dr Anna Mayhew, (Newcastle University, UK) and this was followed by an ‘outcome measures showcase’. The TREAT-NMD tools for trial readiness were presented by Becca Leary (EURO-NMD Project Manager) and the value of patient registries were made apparent when working in the field of rare diseases.

The ethical discussion and role play session facilitated by Silvere van der Maarel, (LUMC, Netherlands) and Becca Leary (Newcastle University, UK) saw attendees discuss the role of children’s participation in a fictitious clinical trial from various standpoints including those of parents, clinicians and researchers with the aim of trying to find a working consensus.

Pietro Spitali (LUMC, Netherlands) introduced attendees to the world of biomarkers, highlighting the different types and demonstrating their benefits and established usage in real world scenarios. Digging deeper into biomarkers, Roberto Fernandez Torron (Newcastle University, UK) touched upon the current practical applications of MRI as a biomarker in trials, current problems encountered and how technology is being developed to overcome them.

The validity and robustness of patient reported outcome measurers was presented by Professor Nathalie Goemans (Universitaire Ziekenhuizen Leuven, Belgium) and provided a comprehensive overview of the range of PROMS (Patient reported outcome measures) available, detailing the advantages and limitations of each measure.

Ria Broekgaarden (Spierziekten, Netherlands) discussed what happens to a drug once it has been approved by the EMA and how its marketing happens on a member state level leading to variations across the EU. Ria then discussed the role of patient organisations in research specifically highlighting their role in the development and curation of patient registries.

The day concluded with Teresinha Evangelista and Tiago Gomes (Newcastle University, UK) discussing the day to day practicalities that need to be considered when designing and setting up a clinical trial.

The third and final “Patient Communication Workshop” session was facilitated by behavioural scientists Stan Veldkamp and Mats Postema (Pennock & Postema, Netherlands) who worked with the group to challenge preconceived ideas by understanding the brain’s unconscious processes, how to critically analyse what they are looking at and how to get this right message across to the audience.

To wrap up the week-long course attendees were asked to deliver a short presentation recalling their experience of the week, what they felt they had learned and what they would like to find out more about.

Upon completion attendees provided the organisers with feedback about the course. Their comments will be acted upon in the planning of next year’s Summer School which will take place in Leiden, Netherlands.

To ensure that attendees receive a high-quality experience numbers will be restricted, further details about the confirmed date and how to register for the 2019 Summer School will be announce in the EURO-NMD and TREAT-NMD newsletters in due course.


RD-Connect Community launches


RD-Connect is an EU-funded integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research.

To help researchers study rare diseases, RD-Connect links different data types - omics (e.g. genomics), clinical information, patient registries and biobanks - into a common resource. RD-Connect enables scientists and clinicians around the world to analyse genomics data and share them with other researchers in a safe and secure way. By making data accessible beyond the usual institutional and national boundaries, RD-Connect speeds up research, diagnosis and therapy development to improve the lives of patients with rare diseases.

Visit or watch the short explanatory video to learn more about the advantages of using RD-Connect in rare disease research and diagnostic practice!

We are pleased to announce the launch of the RD-Connect community which is open to any individual, organisation or research group willing to contribute to shaping the rare disease research field. 

Find out more about information from their latest newsletter.


Share4Rare project launches website


The website for the Share4Rare project was recently launched this week at Share4Rare is a European project that aims at building an online platform to connect patients, caregivers, researchers and other stakeholders involved in Rare Diseases. The team at the John Walton Muscular Dystrophy Research Centre at Newcastle is one of the partners involved in the pilot for rare neuromuscular diseases.


EURO-NMD - Annual Meeting 2018

29-30 November 2018

Our second annual meeting will take place in Prague in the Czech Republic at the Motol University Hospital.

Further details of the upcoming meeting, the programme and how to register will appear here and will be announced in subsequent newsletters.


6th TREAT-NMD International Conference


9-11 December 2019

The previous two TREAT-NMD conferences which focused on translational medicine in inherited neuromuscular diseases were complete sell outs.

The aim of this upcoming international conference was to share progress and lessons learned in the area of translational medicine in inherited neuromuscular diseases and plan for the delivery of future therapies to patients.


SMA Expert Masterclass


TREAT-NMD have announced the first SMA Expert Masterclass. It will take place Monday 19th and Tuesday the 20th of November in central Rome, Italy. The masterclass will be Co-Chaired by Professor Eugenio Mercuri and Professor Nathalie Goemans.

The debilitating nature of Spinal Muscular Atrophy (SMA) means that timely diagnosis and effective care are integral to improving the prognosis and quality of life of patients with this life-limiting condition. The two day Expert Masterclass will provide a platform for health care providers to share ideas, challenges and successes in delivering optimal care to people with SMA. It is suitable for multi-disciplinary health care providers who may encounter patients with SMA.

Leading experts will deliver presentations and interactive workshops to disseminate information on:

  • Latest updates on standards of care, outcome measures and patient registries.
  • Current treatment guidelines and available therapy options with review of market access options in Europe.

There will be a small registration fee, TREAT-NMD will be providing sponsorship for a limited number of spaces. You may also be able to receive sponsorship from pharmaceutical companies. Full programme and further details to come soon.

To register your interest for the masterclass, please click here. For further information please contact the Masterclass coordinator Nicole O'Connor.

VW Camper Van

Summer break

This is our final newsletter before we take our 2018 summer break and we would like to take this opportunity to thank everyone who has been involved with the newsletter throughout the last year.

We will return to your inboxes once again in the autumn with news and information from the neuromuscular field. If you have any news or information that you would like to be considered for inclusion in forthcoming newsletters, you can submit your article by visiting our resources page and filling out the sub newsletter article online form.

Don't forget you can always find out what we're up to by following us on Twitter.

We hope that those of you with vacations coming up have a great break and we look forward to contacting you all again soon.