Newsletter - January 2018

We are now taking applications for our translational summer school

  Translational Summer School Leaflet

We are delighted to announced that applications are now being taken for our five-day summer school. Approximately 24 participants will be based at the Institute for Genetic Medicine, part of Newcastle University in the UK for the duration of the course which will run from 2-6th July 2018.

The course, which has been organised together in association with TREAT-NMD, has been developed for researchers and clinicians interested in translational research and will address the following aspects as it travels along this established pathway.

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

Find out more about the programme and how to apply on our website.


Rare Disease Day 2018!

This will be the eleventh international Rare Disease Day coordinated by EURORDIS. On and around this day hundreds of patient organisations from countries and regions all over the world will hold awareness-raising activities.

There is so much to be said in the fight to increase rare disease research that the theme for Rare Disease Day 2018 is research, continuing on from Rare Disease Day 2017!


Clinical Patient Management System - an Update!

The first version of the Clinical Patient Management System (CPMS) was launched late last year and we are seeking several patients' consent once, we have these in place we will be able to register their details on the system. We are also now in the process of ensuring that a small number of ERN participants have their logins and access in place. Having both of these in place will allow us to register our very first cases. The number of both patients and ERN participants have been deliberately 'kept small' in these initially stages on the project to ensure maximum successful engagement. 

We will of course keep you all informed as to our progress and indeed any outcomes at this very exciting time for our network.


European Reference Networks and RD-ACTION are tackling challenges concerning Clinical Practice Guidelines

RD-ACTION, the European Joint Action for Rare Diseases, has dedicated considerable energies and resources to support the implementation and development of European Reference Networks (ERNs), particularly through its Policy and Integration Work Package.

The reason for this focus is simple: ERNs offer an unprecedented opportunity for the rare disease and specialised healthcare communities in Europe by concentrating expertise and resources across the many thousands of rare conditions, bringing patients a step closer to real equality in accessing the best possible care regardless of where they happen to live.

The responsibilities of ERNs are numerous and daunting: therefore, RD-ACTION set-out to add value by working with the new Networks to identify -and where possible, support the embedding of- good practices and resources, by drawing upon successes in the rare disease and rare cancer field in the pre-ERN era as well as cutting-edge developments in broader fields, and seeking to translate these to the Networks.


Updated Care Considerations for Duchenne have been published in The Lancet Neurology

We are delighted to announce that a significant update to the 2010 publications, ‘Diagnosis and management of Duchenne muscular dystrophy’1,2 has now been published in The Lancet Neurology.

A multidisciplinary committee of experts was established in 2014 with the task of updating the care considerations from 2010 in order to benefit patient care. The new care considerations address the needs of patients with prolonged survival, offer guidance on assessments and interventions, and consider the implications of emerging therapies for Duchenne Muscular Dystrophy (DMD). The committee identified three new topics to be addressed in addition to the eight from 2010. These are primary care and emergency management, endocrine management and transition of care across the lifespan. The care considerations are now published online as 3 papers:

Part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management (

Part 2: respiratory, cardiac, bone health, and orthopaedic management (

Part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan (

Updated Family Guides will be available in the coming months.


1. Bushby, K, Finkel, R, Birnkrant, DJ..., and for the DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010; 9: 77–932. Bushby, K, Finkel, R, Birnkrant, DJ..., and for the DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010; 9: 177–189


Updated Standards of Care for SMA - Neuromuscular Disorders (Publication)

We are delighted to announce that an update of the standard of care recommendations for spinal muscular atrophy (SMA) published in 2007 ('Consensus statement for standard of care in spinal muscular atrophy') is now available. The 2-part report is published in Neuromuscular Disorders:

  1. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care
  2. Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

TREAT-NMD are working with physiotherapists, nutritionists, clinicians and the following patient organisations, to begin work on updating the SMA family guide:


Upcoming events

Below are a few upcoming events that may be of interest to stakeholders in the neuromuscular field. If you have an event that you feel would benefit from inclusion on our website please send us the details so that we can consider your request.


4th Joint Meeting Belgian-Dutch Neuromuscular Study Group and German Reference Center for Neuromuscular Diseases DGNN


This 4th joint meeting is scheduled to take place in Vaals in the Netherlands on 25-26 May 2018. Programme areas include Motor neuron diseases and Myasthenia, Peripheral neuropathies and Muscle Disorders all of which will be followed by oral presentations.

Deadline for abstracts is 2nd April with the closing date for registration being 30th April.


RE(ACT) Congress 2018

7 – 10 March 2018

The conference sessions will explore the world-wide opportunities in rare diseases, NGS and undiagnosed rare diseases, pathophysiology, gene and cell therapy and also neurological diseases.

The Congress provides a unique place for scientific knowledge sharing on rare diseases research and facilitates networking opportunities.

RD-Connect annual meeting

16 – 18 April 2018

The next RD-Connect Annual Meeting will take place on the 16-18th April 2018, in Athens, Greece in the hotel Divani Palace Acropolis which is in central Athens.

This will be the last RD-Connect annual meeting before the end of the first project funding period.

Registration is now open.


EAN 2018 Congress

16 – 19 June 2018

The overarching theme for the Lisbon congress will be ‘Neurogenetics’.

Diagnosis and treatment are increasingly using genetic methods and one purpose of the congress is to highlight clinically useful aspects of genetic medicine in Neurology.

Progress in all fields of neurology will be presented and participants will be updated about recent developments and news in clinical neurology.

ECRD 2018

10-12 May 2018

Abstract Deadline 31st January 2018

ECRD – the European Conference on Rare Diseases & Orphan Products is the largest multi-stakeholder gathering in Europe for the rare disease community covering research, development of new treatments, healthcare, social care, public health policies and support at European, national, regional and international levels.

ECRD 2018 will take place at Messe Wien Congress Center, Vienna, Austria.


AFM-Téléthon announces 2019 scientific conference date!


AFM-Téléthon is pleased to announce that its scientific congress, Myology 2019, will take place in Bordeaux, France (March 25-28, 2019). Further details of the congress will be available in due course.

Don't forget the save the date!


Our 2018 network meetings


Our next face-to-face EURO-NMD board meeting is currently being organised for July 2018.Board members will be contacted in shortly with exact dates, location, details of how to register, agenda, logistics, etc.

We are in the early stages of organising our next annual meeting which will be held in Prague, Czech Republic the date and location in to be confirmed in due course. We would like to take this opportunity to thank Jana Haberlová from Motol University Hospital for volunteering to help with venue and meeting logistics.