Call for new members to join existing ERNs

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We are delighted to announce that the European Commission has launched the first call for new members to join the existing 24 ERNs.

Briefly outlined, the membership application process involves several steps:

• Review the information that is included on the Commission webpage related to the European Reference Networks and the applicable legislation
• Contact national representatives in the ERN Board of MS
• Fill in the application and self-assessment in the online tool
• Include all required documents that are specified in the online tool

Full details of the application process are available on the Commission's Website.

Please note that the closing date for applications is 30th November 2019.

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Massimo Marra
CIDP Italia aps

a. Tell us a little bit about yourself

“I am an IT engineer, I am married with two kids. In my job I deal with databases, big data and digital health. In my free time, I like to go to the seaside since I live close to the coast and I follow my kids in their sports activities.

About 10 years ago, after having pneumonia, I was diagnosed with CIDP, the most frequent dysimmune neuropathy. Then I was not longer able to stand and I lost sensitivity in the limbs. After spending 10 months in and out of the hospital and receiving treatments, I was finally able to recover almost completely and I have not had any relapses so far. One year later, I decided to build the Italian website about the pathology and in 2012 I set up the Italian patient organisation for dysimmune neuropathies - CIDP ITALIA - because I thought we needed a legal instrument to communicate incisively with the governmental counterparts.

One of the first and main outcome achieved by the association was to obtain the authorisation from the Italian drug regulation agency (AIFA) for IVIg and the transient authorisation for SCIg. Now the number of Italian patients on subcutaneous therapy is likely the highest within the European countries. In the recent years, the average time of diagnosis in Italy has been reduced to a few months and the accessibility to various treatment options allows patients to have a very good quality of life.

In the coming years, I would like to continue to combine my job with the engagement for our organisation. In particular, I would like to commit myself to realise self-monitoring systems for peripheral neuropathies.”

b. What is your role in EURO-NMD?

 “I found myself involved in the EURO-NMD almost without realising it but thanks to a series of parallel events. The neuropathies have been included in the reference network for the neuromuscular diseases exactly at the constitution of the EURO-NMD which has a clear prevalence of the muscular component.

I acquired information from EURORDIS about the setting-up of the ERNs and I followed the calls for patient representatives. Both my experience and the results achieved by the Italian association seemed to me a useful resource to be shared with others, but above all I was interested in understanding whether elsewhere in Europe there were opportunities for better care and diagnosis that could be brought to Italy.

“EURO-NMD was created to standardise rare diseases diagnosis, treatments and management in all the EU countries. This means both identifying good practices and collecting data.

We need to work to get epidemiological data on various diseases in different countries of the Union, we need to know the average diagnosis time for the diseases and to better understand whether there are treatments and health services that are still not accessible in some countries.

It is also important to understand if a national network for rare diseases exists in each country and how it works, if there is a global management of it and if rare patients have or do not have a preferential path when it comes to care access. 

For example, we seem to understand that SCIg for CIDP is not accessible in all countries. But uniformity is needed even when we consider the methods for treatments administration. For example, with regard to IVIg, in the same European authorisation, self-administration at home is allowed in some countries, while in others, including Italy, it is available in hospitals only. Finally, in Italy if a person has a diagnostic suspect about a rare neuromuscular disease, there is a network with a dedicated helpline to call in order to enter the diagnostic path. Sometimes we receive requests from patients living in other European countries who are looking for help and we assume that elsewhere this network does not exist or, if it exists, it is not easy accessible for patients. Therefore, the greatest expectation is to create a capillary system in all the EU countries so when a person enters this network for rare neuromuscular diseases he/she can have the same identical opportunities and the same level of attention, regardless where he/she lives.”

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Dimitrios Athanasiou
MDA Hellas

“When my son was diagnosed with Duchenne Muscular Dystrophy, a fatal and incurable rare disease, I became a strong international patient advocate in Duchenne and Rare Diseases.

Having a passionate personality and technocratic background, I educated myself with basic rare disease and advocacy knowledge via the EURORDIS Summer School and then with the 14 month Patient Expert Course of the European Patient Academy of Therapeutic Innovation (EUPATI) acquiring basic biotech and regulatory knowledge, where I served as a Member of EUPATI’s Course Committee for the next year, representing the patient voice.

Locally in Greece I am the patient representative of MDA HELLAS, a board member of the World Duchenne Organization (WDO) and a board Member of European Patient Forum (EPF). Currently I am serving the rare community EURORDIS EPAC/TAG member, Patient Advisor in TREAT-NMD Advisory Committee for Therapeutics (TACT), DIA’s Program Committee Member and many others.

In 2014 I was nominated patient expert by EMA for DMD and have participated in several of EMA's Scientific Advice, SAG, Protocol Assistance and CHMP pilot meetings for Duchenne, providing the essential patient representative perspective when companies request regulatory advice or approval. I am currently serving as PDCO member in EMA representing EURORDIS and Chairing the Patient and Parents Enpr-EMA working group.“

 
“My role, as a member of the Patient Advisory Board is to work with the other patient representatives but also with the rest of the stakeholders inside and outside the Network to assure that the patient preferences are taking into account and that the Network is developing in a patient-centered way. My goal is to share the Duchenne Community experience with the rest of the NMD patient advocates learn from them and develop a strong PAB that will influence in positive way the future of EURO NMD”.

“EURO-NMD is an essential tool to improve care in NMDs and my expectation is that we will all work together to transform this tool to a patient-centered nationality integrated HUB that will bring together research, clinical development, access and patient centricity in the decisions making throughout the EU."

Workshop and Hackathon: Molecular pathways for rare disease (FAIR) data analysis

Registration deadline 10 November 2019

Workshop date - 26-29 November 2019

The focus of this workshop is:
1. Pathway creation and curation – especially rare disease and adverse outcome pathways inspired by needs of ERNs and tox community (day 1-2)
2. FAIR data preparation (prep for pathway and network analysis) – define needs of data analysis and do first steps towards solving (day 2-3).
The workshop takes place day 1-3, after this there will be a hackathon in which we will start together solving the identified problems and test different approaches.

RE(ACT) Congress 2020 and IRDiRC Conference

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Early-bird reigstration closes 30th November!

The BLACKSWAN Foundation and IRDiRC, the International Rare Diseases Research Consortium, are glad to announce the RE(ACT) Congress 2020 and IRDiRC Conference, Berlin, Germany, 11th-14th March 2020. This joint event will continue the RE(ACT) Congress series (6th edition) and IRDiRC Conference series (4th edition).

It aims to bring together scientific leaders and experts and young scientists from a variety of breakthrough scientific fields to present cutting-edge research, exchange ideas and discuss policies related to rare diseases research. Patients and patient organizations, who are committed to research, will also be in attendance to share their experiences and perspectives.

Diplôme Inter-Universitaire de Myologie 2019-2020

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The rapid progress of research, the renewal of concepts, the evolution of the care of patients now make myology a well-differentiated field of medicine. The objective of this teaching course is to provide students with a coherent, structured and modern vision of this discipline in its anatomo-physiological bases.

Please note: this course and all related information is in French.