Invitation to RITA Webinar: Newborn screening for SCID

Implications from a one-year experience of a nationwide program

Save the date: October 23, 2020, 14:00 CEST

More about the webinar

The webinar is aimed at medical students and medical doctors with an interest in newborn-screening, neonatology, immunodeficiency and hematopoietic cell transplantation.

The webinar will consist of 30 min presentation and 30 min Q&A session.

 

You are kindly invited to send questions on the topic before the webinar to contact-rita@ern-net.eu

Speaker: Dr Fabian Hauck

Assistant Professor and Head of Immunodeficiency Unit and Immunological Diagnostics Laboratory at LMU Klinikum, Munich.

Registration

Please register here

MERITA project introduction & leaflet

We are happy to inform you that the MERITA project “A metadata registry for the ERN RITA” has started!

The aim is to complete the registration of all the RITA registries in the European Rare Diseases Registry Infrastructure and develop a new RITA registry collecting basic data from all the RITA network registries, according the Common Data Elements identified by the European Commission’s Joint Research Centre.

This is an important step towards attaining interoperability between rare immune disorder registries, which is essential to ameliorate care of patients.

You can download the PDF version of the project leaflet here.

Invitation to RITA Webinar: Evaluation and Early Diagnosis of AAV

September 11, 2020, 14:00 CEST

More about the webinar

This webinar aims to offer an overview of ANCA-associated Vasculitis, and we welcome all those involved clinically in vasculitis, including nephrologists, rheumatologists, dermatologists, pulmonologists, paediatricians, and especially young colleagues who are looking for an overview in the field. We will focus on the clinical setting including practical advice on patient care.

  • 30 min presentation,
  • 15 min Q&A session,
  • 15 min open discussion

You are kindly invited to send questions on the topic before the webinar to contact-rita@ern-net.eu

Speaker: Irmgard Neumann

Nephrologist, Vienna, Austria and IZZ, Immunologiezentrum Zurich, Switzerland, active EUVAS member.

Registration

Please register here

Invitation to RITA Webinar: Pediatric multisystem inflammatory syndrome (PMIS) in the context of COVID-19

10. June 2020, 14:00 CET

More about the webinar

The webinar will cover major clinical manifestations and evaluation of the novel multisystem inflammatory syndrome in children that is related to SARS-CoV-2 infection and possible differential diagnoses.

  • 30 min presentation,
  • 15 min Q&A session,
  • 15 min open discussion

You are kindly invited to send questions on the topic before the webinar to contact-rita@ern-net.eu

Speaker: Prof. Angelo Ravelli

Head of Division of Rheumatology at the Giannina Gaslini Institute, Genoa, Italy, and Director of Pediatric Residency Program at the University of Genoa.

Registrations

This webinar is dedicated to practicing rheumatologists, immunologists and pediatricians with an interest in inflammatory and autoimmune conditions in children.

Please register here

European Conference on Rare Diseases & Orphan Products (ECRD) 14-15 May 2020

As you may already know, ECRD 2020 will now take place exclusively online, on 14-15 May using an interactive online platform. It is now possible for more people than ever to register to participate online from the safety and comfort of your own home, wherever you are in the world. In line with moving online, registration fees have been reduced to make it easier to connect with the rare disease community from home. If you had already registered via the old registration form for the conference in Stockholm, you do not need to re-register. Once registered, you will be able to participate in interactive sessions led by over 100 industry experts built around six themes, including Theme 3: ‘Share, Care, Cure: Transforming care for rare diseases by 2030’, which has a particular focus on the role of ERNs. The Conference is an unrivalled opportunity to network and exchange invaluable knowledge with all stakeholders in the rare disease community from over 50 countries around the world – patient representatives, policy makers, researchers, clinicians, industry representatives, payers and regulators. Despite the many challenges we are all currently facing, by joining the global rare disease community at ECRD 2020 you will help to shape the next decade of policy for people living with a rare disease! Kind regards, ECRD Secretariat

COVID-19 European Patient Registry

In the midst of the CORONA pandemic we want to inform you that there are 2 separate surveys to report Covid19 infected patients with underlying rheumatological or immunological conditions. The first one was setup by ESID and was reported at the RITA website on march 22. It is accessible by https://www.surveymonkey.com/r/67RBPNZ?

The second survey is specifically for patients with rheumatic conditions and is called COVID-19 European Patient Registry, written by the Global Rheumatology Alliance. The latter registry is aiming at patients and is open for adults as well as pediatric patients. So far, we have 2,146 adults and 374 children in the Registry, and have had 14 adults and 1 child diagnosed with COVID-19. It can be accessed at www.jarproject.org/covid

IPOPI coordinated a global statement on COVID-19

In light of the ongoing COVID-19 outbreak IPOPI, ESID, INGID, APSID, ARAPID, ASID, LASID & SEAPID is releasing a joint statement on the current epidemics of the new coronavirus (see attachment). We understand that the ongoing situation raises many questions for you and your members and we hope that this statement will answer many of them.

You may find the statement here.

IPOPI, ESID and ISNS launch anEU level Call to Action on Newborn Screening for Rare Diseases

The EU level Call to Action on Newborn Screening for Rare Diseases launched by IPOPI, the European Society for Immunodeficiencies (ESID) and the International Society for Neonatal Screening (ISNS) last December at the IPOPI 13th EU PID Forum is now available for consultation.

The 13th IPOPI EU PID Forum was dedicated to “Newborn screening for rare diseases – A PID perspective” and set the scene for a strong political debate on newborn screening for severe combined immunodeficiencies as well as other severe forms of PIDs (such as complete Di George syndrome). The Call to action was supported by a high number of MEPs including those present at the Forum: Dr Manuel Pizarro (Social-Democrats, Portugal), Ms Tilly Metz (Greens, Luxembourg), Ms Irena Joveva (Renew Europe, Slovenia), Ms Sirpa Pietikainen (European People’s Party, Finland) and Dr Tudor Ciuhodaru MEP (Social-Democrats, Romania).

The Call to Action stresses the need for the development and implementation of overarching guidelines in the field of newborn screening for rare diseases and the creation of a European newborn screening standing committee was observed. This would facilitate the exchange of best practices and recommendations on newborn screening and allow national decision-makers to better access information and solid evidence from other Member States.

4th Conference on European Reference Networks

Date

Wednesday 21 November 2018 from 09:00 to 17:45

Thursday 22 November 2018 from 08:45 to 17:00

Venue

  • Charlemagne Building – European Commission – Gasperi room
  • Rue de la Loi 170, 1000 Brussels – Belgium

Background 

24 ERNs were launched in March 2017 and are now operational. The ERNs’ system is a successful story. The complexity and ambition of the model implies a continuous and proactive analysis of the many challenges that ERNs are facing in the current deployment phase and those that will arise in the future.

The objectives of this year’s conference are:

  • To inform about the state of play of ERNs as a success of cross-border collaboration and new way of delivering healthcare.
  • To mark the momentum that ERNs are entering into a new life cycle: the deployment phase.
  • To present the main clinical and organisational outcomes of the networks and lessons learnt.
  • To identify the main challenges, potential improvements for the functioning and management of the networks and the way forward of the ERN system.

10 delegates from each ERN have been registered for this event and the network will share the outcome of these days with those who were unable to attend.

18th International Conference on Behçet’s Disease

18th International Conference on Behçet’s Disease, Rotterdam, the Netherlands.

The Erasmus University Medical Center in Rotterdam is a recognized Academic Center of Excellence on Behçet’s Disease in the Netherlands and participates in the European Reference Network in Behçet’s disease.

The international conferences on Behçet’s Disease are always a main event for physicians and researchers interested in Behçet’s disease. The contributors provide top oral presentations and poster sessions of accepted abstracts on a wide range of topics including basic immunology, genetics and clinical innovations. Meet-the-expert sessions will give young physicians an opportunity to share experiences with experts in the field.

http://behcet2018rotterdam.com/

European Rare Diseases Day 2018: One-year anniversary of the European Reference Networks for rare diseases

One year on from their launch, ERNs are treating more than 50 patients with rare diseases. Such is the nature of rare and complex diseases, that specialist knowledge is scarce and fragmented, and therefore often unavailable in the patient’s region or country. Case studies are used in this article by Vytenis Andriukaitis, European Commissioner for Health and Food Safety to demonstrate how this makes ERN work on rare diseases an area of enormous EU-added value; using the EU’s great pool of knowledge and expertise and by connecting our assets through ERNs can bring concrete benefits to many thousands of patients.

Creating a Sustainable Environment for Holistic & Innovative Care for Rare Diseases & Complex Conditions

12-13th April 2018, Frambu, just outside of Oslo. The location was selected as this workshop is in fact being co-organised with another important project for the rare disease/highly specialised & complex care field: INNOVcare https://innovcare.eu/events/

Although not focused solely on ERNs, the ERNs will have a particular prominence and focus in this workshop, to explore how the Networks –as key players in the RD field- can support the activities initiated by previous and current Joint Actions and the INNOVcare project, and provide insight to the rich experiences of your disease communities

Commission representations in Member States

France: https://ec.europa.eu/france/news/20180228_maladies_rares_fr

United Kingdom: https://ec.europa.eu/unitedkingdom/news/first-anniversary-eu-health-network-harnesses- knowledge-and-expertise-help-thousands-patients_en

Italy: https://ec.europa.eu/italy/news/20180228_giornata_europea_malattie_rare_it

Spain: https://ec.europa.eu/spain/news/180228_eu-day-rare-diseases-2018_es

Czech Republic: https://ec.europa.eu/czech-republic/news/180228_ERS_pro_vzacna_onemocneni_cs

Ireland: https://ec.europa.eu/ireland/news/european-rare-disease-day-2018_en

Luxembourg: https://ec.europa.eu/luxembourg/news/journ%C3%A9e-europ%C3%A9enne-des-maladies-rares-2018-premier-anniversaire-des-r%C3%A9seaux-europ%C3%A9ens-de_fr

Source: European Commission

World Primary Immunodeficiencies Week 2018 – 22nd – 29th April 2018

World PI Week offers an opportunity to inform and educate health policy-makers, schools and families, and the general public about primary immunodeficiencies (PID) to drive the earliest possible diagnosis and optimal treatment. Through events and activities promoting early recognition of PID, the read more global PID community can unite to bring about positive changes in healthcare systems and practices around the world in support of people living with PID.

http://www.worldpiweek.org/home

Press release Rare Diseases Day and 1 year anniversary of ERNs

European press:

The Parliament Magazine, 20 February 2018

https://www.theparliamentmagazine.eu/articles/opinion/rare-disease-research-european-reference- networks-are-good-start

European Commission, 28 February 2018:

http://ec.europa.eu/newsroom/sante/newsletter-specific-archive-issue.cfm?newsletter_service_id=327&newsletter_issue_id=7438&page=1&fullDate=Wed%2028%20Feb%202018&lang=default

Politico Pro, 1 March 2018:

RARE DISEASE NETWORKS, ONE YEAR IN: The computer networks are up and running and rare disease patients are starting to enter their data. A year after their launch, the European Reference Networks are looking ahead to what it will take to truly perform their mission: connect patients with the Continent’s top experts, no matter where they live. Health Commissioner Vytenis Andriukaitis is one of the ERN’s biggest cheerleaders; he envisions them as the “backbone” of a broader pan-European health data network. Yet Andriukaitis was clear- eyed Wednesday about the three immediate challenges facing the ERN as they enter their next phase.

The first, he said, is making sure the ERN are integrated into national and regional health systems. Member countries need to assess whether they need to change their laws to aid success. It’s not yet clear how patients get referred into the ERN, and the exact definition of how member countries support the ERN is still murky.

Hospital support is the No. 2 challenge for the ERN, Andriukaitis said, with hospital managers as “key players.”

Finally, and perhaps most politically important, is pulling other countries into the networks. Right now, 25 EU countries and Norway are part of the 24 networks. A big concern has long been that the “centers of excellence” — the hubs of the ERN spokes — will be disproportionately in Western and Northern European countries. Andriukaitis said the Commission is planning to launch a call for new ERN members to join at the end of 2018. “We need to ensure that new members bring new knowledge into the networks and increase the geographical coverage,” he said at Wednesday’s event, hosted by the patient group EURORDIS. In patients’ own countries, he added, “networks need to become stronger, more productive and more accessible.”

National coverage:

Italy (Panorama Sanitá), 1 March 2018:

http://www.panoramasanita.it/2018/03/01/malattie-rare-oggi-il-primo-anniversario-delle-reti-di-riferimento- europee-gia-operative-24-ern/

Croatia (Vecernji), 1 March 2018:

https://www.vecernji.hr/vijesti/europski-dan-rijetkih-bolesti-ern-vytenis-andriukaitis-1229685

Portugal (Público), 2 March 2018:

https://www.publico.pt/2018/03/01/sociedade/opiniao/um-ano-de-redes-europeias-de-referencia-para- as-doencas-raras-1804781

Bulgaria (Forum Medicus), 7 March 2018 http://forummedicus.com/