A Report from our EURO-NMD Annual Meeting 2019

The 3rd EURO-NMD European Reference Network (ERN) annual meeting was held in Ferrara, Italy, 6-8 November. Over 100 delegates attended the conference. Their backgrounds ranged from clinicians, researchers, patient representatives through to industry making this a very dynamic and well represented meeting that generated much discussion throughout the three days.

A workshop on genetics was organized and also our eleven working groups dedicated to pathologies or cross-cutting topics such as education or imagery, met in parallel meetings to review business and work further on their roadmap for the future.

We were delighted to welcome Victor Dubowitz as the first speaker of the main conference itself. His presentation entitles Ramblings in Myology: My First 60 years had everyone in the audience enthralled. Following on speakers from all over Europe shared their experiences and insights on hot topics such as SMA newborn screening, e-health, financial funds to advance research. In accordance with the motto of the network: "knowledge travels, not the patient" the clinical cases discussed in the plenary session were very successful in knowledge generation.

Taking the opportunity to meet face to face, the Board of Directors, welcomed new members from European countries that were not previously represented, and the Executive Committee agreed upon date and location for what will be our 4th annual meeting.

The ERN team in Paris, Dr. Teresinha Evangelista, Annelies Herman and Heike Pascal, and the Newcastle team, Chloe Blewitt and Michael Hails are delighted with the success of their meeting: As it should be for a network of expertise, it was a wonderful opportunity to share and disseminate of knowledge. We would like to thank our wonderful Italian hosts who ensured that we were well looked after in beautiful surroundings with good company and there was even a little singing!

Don't forget to save the date - 18-20 November 2020 - Budapest Hungary!

We look forward to seeing you there!

Voices of Patients

Screening for neuromuscular diseases: the results of the survey are in!

With the spectacular growth of methods of genetic screening and the arrival of the first drugs modifying the natural history of the diseases, the screening of neuromuscular diseases has become a much discussed subject across Europe. This summer, the EURO-NMD Patient Advisory Board thus launched a survey on screening for neuromuscular diseases, with two objectives: 1) taking stock of the current and uneven situation on this issue in European countries, and 2) identifying patients’ needs regarding screening for neuromuscular diseases.

The survey was sent to 110+ European associations active in the neuromuscular field, including both general and disease-specific organizations. The Patient Advisory Board received answers from 30 associations in 18 countries.
Preliminary results indicate that European patient organisations are overwhelmingly in favor of screening for neuromuscular diseases, with some discrepancies depending on the pathology and availability of treatment. Open-ended questions also allowed patient representatives to share their association’s standpoint on specific questions (see photo enclosed).

François Lamy, Chair of the Patient Advisory Board, presented the preliminary results of this survey during the EURO-NMD annual meeting in Ferrara on November 6-8, 2019.

The Patient Advisory Board will now finalize the analysis of the contributions received and disseminate the results to all EURO-NMD stakeholders. This dissemination may take the form of a publication and/or of a specific webinar dedicated to this issue.

European Joint Programme on Rare Diseases (EJP RD) Call for Proposals 2020

The aim of the call is to enable scientists in different countries to build an effective collaboration on a common interdisciplinary research project based on complementarities and sharing of expertise, with a clear future benefit for patients.

A number of national and regional funding organisations will participate in the EJP RD Joint Transnational Call (JTC) 2020 and will fund multilateral research projects on rare diseases together with the European Commission (EC) under the EJP-COFUND action.

Research proposals must cover at least one of the following areas:

1. Development of novel therapies in a preclinical setting (including small molecules, repurposing drugs, cell and gene advanced therapies) focusing on condition(s) with unmet medical needs
2. Use of disease models suitable for medicinal product’s development according to EMA guidelines
   
3. Development of predictive and pharmacodynamics (PD) biomarkers (with appropriate analytical methods e.g. OMICS) in a preclinical setting (e.g. in the validated model or in pre-collected human samples) for monitoring the efficiency of the therapy. The model chosen must mimic the human diseases and be transposable so that the biomarker identified in animals can be valid for humans
4. Proof of principle studies fostering an early (pre-clinical) stage of drug development (excluding interventional clinical trials of phase 1-4).

The call is scheduled to open on 13th December 13, 2019 and the registration deadline is 12 February 2020.

Find out further details on the EJP website.

Translational Summer School 6-10 July 2020

We are delighted to announce that planning  for our third Translational Research Summer School which will be held in 6-10 July 2020 in Leiden, Netherlands is well underway.

Our programme along with session speakers is almost finalised and we anticipate opening applications to attend in early 2020. We will make an announcement via our usual channels to this effect in the new year.