Newsletter - September 2017

Guidelines, gap analysis and new connections


Updates from the specialist disease groups:


The gap analysis of the guidelines is well underway, with recent diagnosis and management guidelines in place for FSHD, LGMD’s, CMD DM1 and DM2 care guidelines are also plain preparation for these diseases) . Further guidelines for DM1, DM2 and IBM are in progress.

The muscle working group's research identified that no guidelines exist for MFM or the Idiopathic inflammatory myopathies.

The muscle group has also identified cross over with two other ERNs and is working in collaboration with MetabERN (metabolic) and Re-CONNECT (connective tissue and musculoskeletal diseases) to identify common aims and activities. 

Neuromuscular junction

The Gap analysis for NMJ revealed a lack of (or incomplete) guidelines for congenital myasthenic syndromes and paediatric MG. However, there are a number of guidelines in place for adult MG in French, Italian and English, including a recent American version.

The group have organised a face-to-face meeting to take place during the EURO-NMD Conference, and intend to prepare an interesting NMJ case to present. 

Mitochondrial disease

The group’s review of current literature found five recent guidelines for mitochondrial diseases including those on care, data elements, diagnosis and outcome measures.


The Neuropathy group held its first face-to-face meeting at the Peripheral Nerve Society meeting in July.  A questionnaire was agreed for care guidelines, which has been sent to all centres. Following the results of this survey a guideline registry will be developed.

Motor neuron disease

This specialist working group is further subdivided into:

  • Amyotrophic lateral sclerosis (ALS) and related conditions
  • SMA and related conditions

Work is ongoing to map expertise in these two areas.

There is a great deal of activity in SMA due to approval of the first drug Spinraza (nusinersen).  The revised standards of care for SMA have now been submitted for publication.


What have the cross cutting working groups been up to?




Using the data provided by the 61 HCP’s during the application process the group are carrying out research into the standardisation of neurophysiological practice. The group are also creating links between the transversal working groups by appointing members from each of the five disease working groups. The group is also seeking more expert members.


The working group has been in regular contact and will be meeting in person at the upcoming WMS meeting. The group aims to revise the genetic diagnostic guidelines and forge strong links with RD-connect for data sharing (of both genotypic and phenotypic data).

The group is currently drafting a questionnaire. The goal is to share the questionnaire with other related ERN’s, such as Epicare.


Monthly case reviews are taking place between the leads of the imaging group. The working group is updating the existing standard operating procedures for muscle NMR imaging. Future plans include a hands on workshop and training school using existing Myo-MRI and Paris IOM initiatives.


A survey of the methodological practices and activity numbers among the 61 HCP’s is ongoing with around a 50% response rate so far. The inventory will be completed by the end of this year.

Following this, guidelines for minimal basic methodology and recommendations for standard and extended practice will be developed in 2018. These will include recommendations around reporting.


Neuromuscular Translational Summer School


 Save the date! 2-6th July 2018

This joint venture between TREAT-NMD and EURO-NMD will address the following translational research aspects:

• Bench to bedside research
• Regulatory system
• Clinical trials
• Outcome measures
• Patient communication
• Registries and biobanks
• Biomarkers and –omics.

Lasting five days, the Summer School will be held at the Institute of Genetic Medicine at the University of Newcastle upon Tyne. This comprehensive course will serve as a superb foundation for those wanting to direct their medical or research career in the direction of neuromuscular diseases.

Further details and agenda will be available soon. 

KB video clip

Katie Bushby features in ERN documentary

Katie Bushby, Coordinator of EURO-NMD, is one of the ERN coordinators featured in a new video. The short film is available on the European Commission website and gives an introduction to the role and scope of European Reference Networks.

European Reference Networks: a ray of hope for patients with rare and complex diseases, their families and doctors


Research board update

Focus on European Joint Cofund (EJP)

EJP will be a unified European Comission funding stream for Rare Disease research from 2019, combining activities previously under E-Rare, Horizon2020 and others.

There will be several, iterative rounds of discussion between funders and experts (scientists, clinicians, patients, etc).  Some communications have already taken place and will continue over coming months. There are three "Pillars" to the EJP:

  • Pillar 1 – collaborative research projects, similar to E-Rare;
  • Pillar 2 – data infrastructure, similar to Orphanet and RD-Connect;
  • Pillar 3 – secretariat, teaching, communication, similar to IRDiRC secretariat

There will be opportunities for EURO-NMD and for individual NMD research institutes and hospitals  in pillar 1 and pillar 2. The call for applications will open in 2018




EURO-NMD Conference - 29th-30th November 2017

The first EURO-NMD conference cannot be missed! The venue for the conference is the beautiful town of Freiburg, Germany. We are preparing an exciting and interactive agenda including updates from all of the working groups, panel discussions, interesting or unsolved cases and e-posters. There will also be a live demonstration of the Clinical Patient Management System. 

The latest information including the agenda and registration can be found here



Collaboration is key

We urge all ERN members to register on the EURO-NMD collaborative platform. The platform offers an opportunity for discussion, file sharing, and regular communication. If the platform is widely used it will help to reduce the amount of emails we all receive. 

TREAT-NMD Conference. 27th-29th November

Registration is still open for the TREAT-NMD conference which precedes the EURO-NMD conference. The conference is a must for anyone interested in NMD translational research. Expert speakers are lined up to cover the following topics:

  • Emerging treatment strategies
  • Outcome measures
  • Regulatory matters
  • HTA
  • Data integration and gene discovery
  • Biomarkers
  • Standards of care