unsubscribe | view this newsletter online | full newsletter
27th October 2016
New TREAT-NMD Executive Committee Chair

On October 6 2016 I handed over Chairmanship of the TREAT-NMD executive committee to Kevin Flanigan, while Filippo Buccella became the new Vice-Chair.

I have been Chair for 3 years and would like to take this moment to express my thanks to past and current executive committee members for their contribution and the pleasant collaboration. I would also like to thank the TREAT-NMD secretariat for all their hard work and the Task Force and members for their input and continued support. Your efforts, enthusiasm and motivation made my role as chair easy. I feel privileged to have been chair for 3 years and feel confident to hand over TREAT-NMD to the capable hands of Kevin and Filippo.


New Study Points to CD40 as a Modifier of
Duchenne muscular dystrophy (DMD)
back to top    

There is substantial variability in the severity of DMD despite dystrophin being absent (or only available in trace quantities) in all cases. For example loss of ambulation can vary by several years between individuals which suggests the existence of one or more modifier genes. To identify and understand modifier genes may not only help to predict outcomes for patients better, but may also support the development of new treatments.

109 Patients from the CINRG natural history study were enrolled to perform a genome-wide association study looking at loss of ambulation. The strongest prioritized association signal corresponded to two neighbouring single-nucleotide polymorphisms (SNP’s) located in the first intron of CD40. Loss of ambulation occurred earlier in boys who carried at least one copy of the minor allele (Median loss of ambulation was 2.8 years earlier). The CD40 gene is known to encode a protein involved in T helper cell polarization, and is expressed in both healthy and DMD muscles.

The study was replicated on further similar cohorts from European consortia (BIO-NMD, NeurOmics) and provided a strong validation of the CD40 modifier effect. The finding indicates that reduced CD40 expression in carriers of the CD40 minor allele may precipitate failure of regeneration and fibrosis in DMD skeletal muscle. It suggests that cell-mediated immunity could be a future therapeutic target in DMD. The study is a good example how modifier genes can be identified in a rare condition such as DMD through international collaboration and data sharing.

The full article is available here.

Call for ePAG Representatives
back to top    

Join the ePAGs to connect with the European Reference Networks (ERN) patient community.

EURORDIS has published a call for patient organisations to join the European Patient Advocacy Groups (ePAGs). There is an ePAG for each ERN project proposal / thematic area of expertise. Patient representatives from any European Patient organisation (member or non-member of EURORDIS) are called to join the ERN and fill in the EPAG Matchmaker tool here.

EURORDIS Guide for Patient Advocates in ERNs

All information is available here.

Eurordis Summer School 2017
back to top    

EURORDIS will organize another Summer School, ExPRESS 2017 (Expert Patients and Researchers EURORDIS Summer School) from June 5-9 2017 in Barcelona, Spain. This Summer School teaches about drug development, the regulatory process and drug access. Faculty consists of expert patient representatives, researchers and representatives from the European Medicines Agency. This Summer School comes highly recommended.

If you would like to attend “ExPRESS 2017”, you need to apply by completing the application form, which can be sent to the EURORDIS Training Manager Nancy Hamilton before November 30, 2016. You can find the application form here: (under item 3, how to apply). Only complete applications will be considered. You are encouraged to send in your completed application at your earliest convenience.

International GNE Myopathy Registry Newsletter (5th Edition)
Multiple Languages Now Available
back to top    

The International GNE Myopathy Disease Monitoring Program (GNEM-DMP) registry has released its fifth newsletter in a range of languages which are available to download here from the TREAT-NMD website. The newsletter is used as a way of informing patients and families, as well as doctors, about what is going on with the registry, as well as containing updates from the study partner on anything else related to GNE myopathy.

Available Languages: Arabic, Bulgarian, Chinese, Dutch, English, Farsi, French, German, Hebrew, Italian, Korean, Portuguese, Spanish, Turkish

This fifth issue contains the following articles:

  • Completion of Enrolment of the Phase 3 Ace-ER (Aceneuramic Acid Extended Release) Clinical Trial
  • GNEM-DMP Registry Update
  • GNE Myopathy Patient Advocacy Event - Update of Days Events
  • Patient Advocacy at Ultragenyx - Launch of New Website
  • Patient Advocacy Summit: "Let's Talk Myopathy" - Barcelona, Spain
  • Remudy - Registry of Muscular Dystrophies (Japan)
  • Participant Story: ‘My Journey So Far’ – Yuriko Oda

See all of our previous newsletters on the International GNE Myopathy Registry

For more information on the GNEM-DMP Registry, including how to participate, contact HIBM@treat-nmd.eu

Danish Translation of Duchenne Muscular Dystrophy
(DMD) Research Overview Now Available
back to top    

Did you know that TREAT-NMD has prepared a research overview for DMD?

The aim of the overview is to inform patients and parents about the different therapeutic approaches for DMD currently under investigation, to describe the advantages and disadvantages of each approach and to list the hurdles that have to be overcome before these approaches can be applied to patients.

This overview has been translated into a number of different languages, the most recent being the Danish translation which is available here.

back to top    

A Neuromuscular case study led by Newcastle University and Muscular Dystrophy UK (MDUK) will be an integral part of the recently launched IMI funded PREFER study. PREFER (Patient Preferences in Benefit-Risk Assessments during the Drug Life Cycle) is a five year public-private research project where academic researchers and the pharmaceutical industry work together to find out when and where patients want, can and should be involved in drug development.

Industry, regulatory authorities, health technology assessment bodies, reimbursement agencies and patient organisations are in agreement regarding the high value of patient preferences. However, there is little guidance on conducting and using such studies in pharmaceutical industry, regulatory and reimbursement decision environment. PREFER will provide a set of systematic methodologies and recommendations to assess, engage and include patient perspectives during the development, approval, and post-approval of new therapies. The Neuromuscular case study will be one of three clinical areas (along with rheumatoid arthritis and cancer) that will put into practice the methodologies developed throughout the project.

The project is coordinated by Mats G. Hansson, Professor of Biomedical Ethics at Uppsala University’s Centre for Research Ethics & Bioethics working closely with the industry project lead Conny Berlin, Global Head of Quantitative Safety and Epidemiology at Novartis Pharma AG.

For more information visit the project website.

Disclaimer: This news item and its contents reflects the PREFER project's view and not the view of IMI, the European Union or EFPIA.

Acknowledgement: The Patient Preferences in Benefit-Risk Assessments during the Drug Life Cycle (PREFER) project has received funding from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 115966. This Joint Undertaking receives support from the European Union's Horizon 2020 research and innovation programme and EFPIA.

Meetings and Events
back to top    

MYOCON 2016, 3rd-4th December, India

3rd International Conference on Neuromuscular Disorders

This conference will provide another exciting and comprehensive update on the basic science of muscle disorders as well as clinical research. It provides a wonderful opportunity for doctors including Neurologists, Pediatricians and Physicians interested in neuromuscular disorders, Pathologists, Rehabilitation specialists and Allied Health Professionals like Physiotherapists, Occupational Therapists and others to share the rapidly advancing knowledge in muscle disorders. Besides providing our members and guests with update on the latest developments, a specific goal of the programme committee is to provide a unique forum for interdisciplinary education and to inspire a creative translational exchange between clinical and preclinical scientists in this exciting field. Accordingly, the scientific sessions were designed to combine both basic science and clinical aspects of each individual topic to facilitate translational scientific exchange, education, and collaboration.

Clinician brochure available here. Patient brochure available here.


RARE-Bestpractices, 24th November, Rome

The RARE-Bestpractices Conference will take place in Rome on the 24th of November 2016 at Istituto Superiore di Sanità, Rome, Italy. The aim of the Conference is to disseminate the results of the RARE-Bestpractices project and offer a forum for discussion among all stakeholders on how to take advantage from this work in delivering better health decisions and health policies for rare diseases. The event will bring together leading experts in the area of evidence synthesis documents who will discuss the methodological advancements and knowledge resources developed by RARE-Bestpractices consortium and focus on mechanisms for ensuring the production of reliable, relevant, usable evidence in a bid to increase the value of research on rare disease.

The Conference is open to health professionals, policy makers, researchers, research funders and citizens involved and interested in rare diseases health care, guideline development, health technology assessment and in improving the value of research. Register online at the Conference website or here.

Job Opportunity: Paediatric Junior/Senior Clinical Research
Fellow Neuromuscular Disease
back to top    

Exciting opportunities have arisen to appoint a Junior/Senior Clinical Research Fellow (SCNMRF) in Paediatric Neuromuscular Diseases at Alder Hey Children’s Hospital, Liverpool. Alder Hey is a large, multi-speciality tertiary children’s hospital in Liverpool, North-West England and has recently moved to a brand new, purpose-built hospital, ‘Alder Hey Children’s Health Park’.

The post is initially for 12 – 24 months and is entirely devoted to daytime activities within the paediatric neuromuscular service. It offers training, research and clinical experience in neuromuscular diseases. We are seeking motivated suitably-qualified candidates who wish to gain advanced clinical and research training focusing on paediatric neuromuscular diseases.

Suitably-qualified candidates will have a background in general paediatrics, community paediatrics or paediatric neurology. The successful candidate will be expected to participate in ongoing and new neuromuscular research projects and will have the opportunity to participate in the acute and long-term assessment and management of both inpatient and outpatients neuromuscular patients.

For an informal discussion and further information regarding the opportunity please contact Dr Stefan Spinty

Save the date for our next conference
back to top    

Following the success of last year's conference in Washington DC, we are delighted to announce that initial planning is now underway for our next conference in 2017.

Dates have been set for 27-29 Nov 2017 in Freiburg Germany.

Our conferences are a fantastic opportunity for patients, academics, clinicians, patient registry curators and industry representatives, indeed all TREAT-NMD stakeholders, to get together to network, learn and exchange ideas about the latest translational research.

We hope that by giving everyone as much notice as possible we can ensure as many people as possible will be able to attend.

As details become more concrete we will provide further updates via our usual channels.

Please 'save the date' for 27-29 November and we look forward to seeing you in Freiburg in 2017!!!

Submit an article
Past newsletters
27th October 2016
TREAT-NMD newsletter - 27th October 2016
unsubscribe | view this newsletter online | full newsletter