Recent Publications

Below is a selection of recent publications that mention our network in some way which we thought you might find interesting.

Over the summer we have seen a large number of relevant publications. Please visit the publications section on the website to access (and search through) many more. 

Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: a European survey study.

The genetic diagnostics of inherited neuromuscular diseases (NMDs) is challenging due to their clinical and genetic heterogeneity. We launched an online survey within the EURO-NMD European Reference Network (ERN) to collect information about the availability/distribution of genetic testing across 61 ERN health care providers (HCPs). A 17 items questionnaire was designed to address methods used, the number of genetic tests available, the clinical pathway to access genetic testing, the use of next-generation sequencing (NGS) and participation to quality assessment schemes (QAs). A remarkable number of HCPs (49%) offers ≥ 500 genetic tests per year, 43,6% offers 100–500 genetic tests per year, and 7,2% ≤ 100 per year. NGS is used by 94% of centres, Sanger sequencing by 84%, MLPA by 66% and Southern blotting by 36%. The majority of centres (60%) offer NGS for all patients that fulfil criteria for NMD of genetic origin. Pipelines for NGS vary amongst centres, even within the same national system. Referral of patients to genetic laboratories by specialists was frequently reported (58%), and 65% of centres participates in genetic testing QAs. We specifically evaluated how many centres cover SMA, DMD, Pompe, LGMDs, and TTR genes/diseases genetic diagnosis, since these rare diseases benefit from personalised therapies. We used the Orphanet EUGT numbers, provided by 82% of HCPs. SMA, DMD, LGMD, TTR and GAA genes are covered by EUGTs although with different numbers and modalities. The number of genetic tests for NMDs offered across HCPs National Health systems is quite high, including routine techniques and NGS. The number and type of tests offered and the clinical practices differ among centres. We provided evidence that survey tools might be useful to learn about the state-of-the-art of ERN health-related activities and to foster harmonisation and standardisation of the complex care for the rare disease patients in the EU.

Impact and Management of Dysphagia in Inflammatory Myopathies

Purpose of Review
Dysphagia is a common symptom in inflammatory myopathies. This review provides an overview on the epidemiology, clinical impact, and management of dysphagia in myositis. Relevant diagnostic tools and treatment strategies are discussed.

Recent Findings
Dysphagia can occur in any inflammatory myopathy, particularly in inclusion body myositis (IBM). It can lead to malnutrition or aspiration with subsequent pneumonia or even death. Dysphagia can be explored and monitored by patient-reported outcome scales for swallowing. New diagnostic tools such as real-time MRI and oro-pharyngo-esophageal scintigraphy have been studied for assessing dysphagia. Botulinum toxin injection can alleviate dysphagia in IBM. High-dose glucocorticosteroids are considered a first-line treatment for dysphagia in all other myositis subforms.

Summary
Evaluation of dysphagia in myositis requires thorough clinical workup and appropriate instrumental procedures. Treatment options are available for dysphagia, but controlled trials and consensus on best patient care are required for this important symptom.

A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Background
Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. It is essential to raise awareness of patients and clinicians of existing gene and variant-specific therapeutics at the time of diagnosis to avoid that treatment delays add up to the diagnostic odyssey of rare diseases’ patients and their families.

Aims
This paper aims to provide guidance and give detailed instructions on how to write homogeneous systematic reviews of rare diseases’ treatments in a manner that allows the capture of the results in a computer-accessible form. The published results need to comply with the FAIR guiding principles for scientific data management and stewardship to facilitate the extraction of datasets that are easily transposable into machine-actionable information. The ultimate purpose is the creation of a database of rare disease treatments (“Treatabolome”) at gene and variant levels as part of the H2020 research project Solve-RD.

Results
Each systematic review follows a written protocol to address one or more rare diseases in which the authors are experts. The bibliographic search strategy requires detailed documentation to allow its replication. Data capture forms should be built to facilitate the filling of a data capture spreadsheet and to record the application of the inclusion and exclusion criteria to each search result. A PRISMA flowchart is required to provide an overview of the processes of search and selection of papers. A separate table condenses the data collected during the Systematic Review, appraised according to their level of evidence.

Conclusions
This paper provides a template that includes the instructions for writing FAIR-compliant systematic reviews of rare diseases’ treatments that enables the assembly of a Treatabolome database that complement existing diagnostic and management support tools with treatment awareness data.

International Networking in Myology

A number of networks have emerged in the field of neuromuscular disorders in the recent years. Not only at the regional/national/continental levels, but more importantly at the international level. Scientists followed by clinicians pioneered this type of interactive organizations. These networks dedicated to myology are useful for data sharing, dissemination of knowledge and translational research. All stakeholders are now part of these networks: patients and caregivers as well as healthcare professionals, scientists and pharma. Some networks have a wide scope while others are more focused on one single neuromuscular disease (DMD or SMA, for instance) or one specific topic. Some are very formal, structured organizations with governance rules and distinct business models while others rely simply on social media; for instance. For many emerging countries, it has been a unique opportunity to join the rest of the myology community with more flexible rules than with international learned societies. The forthcoming challenges of networking are the risk of duplication and excessive competition. Examples of successful networks such as the TREAT-NMD Alliance, EURO-NMD, EVELAM and more recently MENA-MYO will be addressed during the presentation.

New nomenclature for LGMD: patient information leaflet now available in Slovak!

A new nomenclature for LGMD was developed during the 229th ENMC workshop in Naarden, The Netherlands in 2017. This was needed because the definition of LGMD needed an update and the sub-type numbering of the recessive form reached the Z (LGMD 2Z). Consensus was reached on a new classification using the letter D and R for dominant and recessive, a number assigned based on the order of discovery and the affected protein. As a result, for example, LGMD 2B is in the new system LGMD R2 dysferlin-related. The definition of LGMD related to the type of muscle wasting, the age of onset and some clinical characteristics. The results have been published in Neuromuscular Disorders (Straub et al, Volume 28, Issue 8, 2018, Pages 702–710).

For patients, these changes may have considerable consequences. Their disease has now a new name and some types of LGMD no longer are considered to be LGMD, whereas some others that were until recently regarded as different diseases now are considered LGMD-types. It is thus essential for patients to know about these changes and understand their consequences: this new classification will become the standard, and knowing the new name will facilitate contact between newly-diagnosed patients (new classification) and patients who have been diagnosed before (previous classification). It will also allow patients to follow scientific developments.

To better explain these changes to a lay audience, Madelon Kroneman, member of the PAB and Marianne de Visser, Chair of the Muscle Group, developed together a patient leaflet.

This leaflet has been spread among the members of the Muscle Group, the Patient Advisory Board, and in a LGMD patient group on Facebook.

The leaflet is now available in English and Slovak.

We would like to take this opportunity to thank Tomas Vranovsky from the Organization of Muscular Dystrophy making the Slovak version possible.
We would like to see this document available in other languages. Please contact the PAB or Marianne de Visser if you can translate it in your own language.

Research Mobility Fellowships will open 1st October

The call for Research Mobility Fellowships is open twice a year and aims to financially support PhD students and medical doctors in training affiliated to ERN Full Members or ERN Affiliated Partners to undertake short scientific visits (secondments) fostering specialist research training outside their countries of residence and within one of the ERN host institutions. Applicants who will receive fellowships for Research Mobility should acquire at their host (secondment) institution new competences and knowledge related to their research on rare diseases and with benefit to their ERN.

Fellows will be selected taking into consideration several elements such as:

• Relevance and impact of the project, for the fellow, home and host institutions and the ERN as a whole
• Quality of the research proposal
• Organization and proposed methodology of the training
• Relevance of timelines and of required resources and budget

Research mobility fellowships are meant to cover 4 weeks to 3 months. The exchange will be accomplished exclusively within member institutions of the same ERN or between member institutions of different ERNs.

Fellowship exchanges can only be facilitated between ERN full members or ERN affiliated partners. Their travel and accommodation expenses will be covered, up to fixed maximum amounts.

Applicants/Application profile:

• PhD students with a minimum of one year of research experience OR physicians having finished their first year of specialist training 
• Be affiliated to an ERN Full Member or to an ERN-Affiliated Partner Institution from one of the 24 ERNs at the time when the application is submitted, as well as during the proposed period of the training stay 
• The host (secondment) institutions must be Full or Affiliated Member of an ERN at the time when the application is submitted, as well as during the proposed period of the training stay 
• Added value to ERN of the mobility stay 

Research Training Workshop

Application closing date - 12th October!

The goal of the workshops is to train researchers and clinicians affiliated to ERN-Full  Members or – Affiliated Partners in relevant topics on rare diseases research. Training themes may include innovative research methodologies, diagnostic research methodologies, interdisciplinary treatment approaches, such as gene therapy and transplantation, etc. Moreover, the workshops will be aiming to provide a cross-ERN added value. 

The workshops will be delivered as two-day events. Topics can be proposed by clinicians/investigators affiliated to ERN-institutions or EJP RD beneficiaries.  As of 2021, there will be two deadlines for workshop topic applications per year, in January and June. 

Topics will be selected taking into consideration several elements such as: 

• Addressing cross-cutting issues relevant for ERNs 
• Multidisciplinary topics
• Fostering collaboration (within and between ERNs) 
• No overlap with other EJP RD training activities 
• Relevance of the topic for the ERN(s) 
• Benefits for the RD community
• Appropriate training methodology 

The workshops selected for funding will be attended only by individuals affiliated to ERN institutions. Participants will be selected by the coordinator of the ERN managing institution and the workshop organizer based on pre-defined criteria. The costs for the workshop organization will be covered up to a limit of € 25000,00. These include the costs and fees typically charged by the event venue, administrative, audio-visual and IT facilities essential for the workshop, catering, travel and accommodation expenses of workshops participants and invited speakers (if envisaged).

Applicants/Application profile:

The applicant submitting workshop topics must fit one of the following: 

• Affiliated to any EJP RD beneficiary institution. The list of EJP RD beneficiary organizations can be found here 
  
• Affiliated to an ERN full member. The list of full ERN members per country and per network can be found here
  
• Affiliated to an ERN Affiliated Partner institution at the time when the application is submitted, as well as during the period of the execution of the workshop.