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EUROPEAN NETWORK ON RARE PRIMARY IMMUNODEFICIENCY, AUTOINFLAMMATORY AND AUTOIMMUNE DISEASES

Newsletter # January 2021 - Winter Twitter icon LinkedIn icon YouTube icon

SAVE THE DATE!

 
Friday 22nd January, 14:00 CET, next ERN-RITA webinar:

Advances in the treatment of giant-cell arteritis


Speaker: Maria Cinta, Hospital Clinic, University of Barcelona, Spain

> Register here

From the coordinator

 
d527257a-3c07-41bc-a3a9-f0ebd2419711.jpgDear member, dear colleague,

When introducing this newsletter, I’d like to take the opportunity to wish you a Happy and Healthy New Year, hoping that 2021 will allow us to gradually emerge from the chaos generated by SARS-CoV-2!

However, from the ERN-RITA perspective, 2020 had been incredibly busy with such a lot of activities going on! And I am very pleased to say that the trend is expected to accelerate further for 2021.

In these first weeks of 2021 all countries are vaccinating against Covid-19. As health care professionals we fully support this. In addition, there have been comments about vaccination recommendations on various websites*. In short, we believe that vaccinating against SARS-CoV-2 is beneficial for the vast majority of patients with rare immunological conditions. The RITA board will discuss the few exceptional conditions in which vaccination should be postponed or omitted. To follow an advice always remains the responsibility of a healthcare professional, because as you know there is no evidence on adverse events following such a vaccination specifically in our patients. Also, HCPs are encouraged to report adverse events to their national health authorities.

On our other topics, we are still working on the enlargement of ERN RITA network through the evaluation process of the new applications. The process is still ongoing, and it is planned to be finalised in mid-2021. We expect approximately 44 new centres from 18 different member states joining RITA. I’d also like to mention RITA’s educational activities that are now effective with the launch of very successful webinars covering our 4 streams, all available on RITA’s website for replay.

RITA’s work really takes place in the working groups, as this is where the people meet and where topics can be discussed. Neonatal screening for instance is a very important topic where RITA has committed in endorsing the activities of the Screen4Rare platform. Clinical practice guidelines are also instrumental, as there is a need for recommendations. Another important aspect is the connection with the patient organisations that are numerous and very diverse.

Last but not least, RITA is very proud to start the MERITA registry for which we are funded by the EU. This kind of registry aims at linking existing registries so to allow connectivity and interactivity; thus, it is small scaled and embeds few data. So, if you run a registry in a RITA field at European or national level, don’t hesitate to ask us to be connected to MERITA.

Please learn more about RITA’s and RITA streams’ activities in reading the following, I wish you a happy reading!

*for instance, here

 
Nico Wulffraat,
Coordinator of ERN-RITA

ERN-RITA ACTIVITIES

RITA participated in a webinar on “European action to support people with rare diseases: Enhanced collaboration in the time of COVID-19 and beyond”

On November 2020, MEP Sirpa Pietikäinen, Member of the European Parliament (EPP, Finland) and Sobi, hosted a multi stakeholders discussion on how to enhance European cooperation and support for people with rare diseases in the time of COVID-19 and beyond.

Prof. Dr. Nico Wulffraat, ERN RITA coordinator, presented the case of ERN RITA in relation to the European collaboration in immunological disorders. He introduced the work of ERN RITA highlighting that RITA’s mission is to provide comprehensive clinical care for people with rare immunodeficiency, autoinflammatory, auto-immune disorders and paediatric rheumatology. Prof. Dr. Nico Wulffraat emphasised that a multistakeholders support is needed for establishing disease registries. He added that disease registries continue to play an important role in the development of orphan medicines, and that support is needed for the conversion of all existing registries from RID to the ERDRI format to ensure their interoperability with other European rare disease registries.



Furthermore, during his intervention he presented a survey conducted in relation to the setup of registries across the ERNs as well as a specific survey across the 126 members of the ERN RITA (our picture below). Presenting their main findings, he stressed that a large number of registries are under the control of scientific societies and that the pharmaceutical sector is not involved in the institutional governance of the ERNs. 
 


CPMS Webinar for affiliated partners

ERN RITA is working hard to get more centres and medical doctors onboard the CPMS.

Currently, RITA Helpdesk team is organising a CPMS webinar for all Affiliated Partners and hopes their added value will boost the use of CPMS.

In case of interest, if you have not yet reached out, please contact katerina.jenikova@vfn.cz.



Patient organisations Working Group: ePAG Impact Assessment Framework

On November 30th, the pilot phase of the ePAG Impact Assessment Framework was launched. 

This tool was developed by ePAGs and EURORDIS with the aim of developing a clear understanding of the ePAG advocates role and their involvement in the ERNs; identifying the activities that will help reach the identified goals; and explaining the value of the ePAG representatives' involvement in the Networks. Regarding their involvement in the ERNs, the ePAG identified three main objectives: improve quality of care, diagnosis and treatment of rare diseases; ensure patient-centred ERN activities that meet our community needs; and ensure a good level of awareness among the patient community about ERNs and their work. 

Ten measures were developed to assess the contribution of the patient representatives to their objectives. Currently, three ePAG groups are involved in a pilot phase: ITHACA, ReCONNET and RITA. 

In order to make the data collection easier, three RIPAG Representatives belonging to RITA (RIPAG) created a survey, which was then shared among the fellow ePAGs. Once all the data are collected, all RIPAGs will discuss them together and draft a proposal of improvement, which will be then discussed together with all RITA’s stakeholders. The RIPAG Representatives strongly believe that the tool will help identify the areas needing improvements, ensure a regular and transversal engagement of all ePAGs and help improve the communication and awareness on the ERNs and RIPAGs.

 

ERN-RITA webinars 

Education Working Group continued with its successful webinar series.

Newborn screening for SCID – implications from a one-year experience of a nationwide program, Speaker: Dr Fabian Hauck, Assistant Professor and Head of Immunodeficiency Unit and Immunological Diagnostics Laboratory at LMU Klinikum, Munich.

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

>>> Watch recording here


Too much of a response: Hyperinflammation HLH and MAS and beyond, Speaker: Fabrizio de Benedetti, MD, PhD. Head of Division of Rheumatology and Laboratory of Immuno-Rheumatology, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

This webinar covered clinical manifestations and laboratory features of hyperinflammation with a focus on HLH and MAS and discussed conventional therapeutic approaches as well as novel targeted therapies.

>>> Watch recording here


New autoinflammatory diseases and new approaches for the characterization of patients with undefined Systemic autoinflammatory diseases (SAIDs), Speaker Marco Gattorno, President of the International Society of Systemic Autoinflammatory Diseases (ISSAID), Head of the Center for Autoinflammatory Diseases and Immunodeficiencies, G. Gaslini Institute for Children, Genoa, Italy.

This webinar illustrated the practical approach to undifferentiated autoinflammatory diseases in the light of the novel technical possibilities. The closer link with immunodeficiencies and immune dysregulation was also discussed.

>>> Watch recording here


All the recordings and information on future planned webinars can be found here

 

ERN-RITA Transition care Working Group presented at IPOPI Global Patient meeting

Siobhan Burns, Consultant at University College London and chair of RITA’s Transition Care Working Group gave an insightful presentation on the outcomes of the transition survey her working group released and on the regional challenges arising from its analysis.

 


ERN-RITA Communication Working Group: call to action

If you have any information/activity that is of interest to the ERN RITA community, please: 
  • Newsletter & LinkedIn: don’t hesitate to email us
  • Twitter: tag us @_ERNRITA, so we can like and RT

FROM RITA STREAMS - AUTOIMMUNe DISEASES

GAIN launched a new Web site: Research of complex autoimmune diseases more visible

The research association GAIN (German multi-organ Auto-Immunity Network) has a new web site. Experts of the four university hospitals Freiburg, Hannover, Kiel and Munich are working on researching and improving the causes and treatment of autoimmune diseases affecting several organs. The website contains among others an overview of the seven research projects, a Germany-wide biobank, a patient registry and a clinical study. "With the new website, patients contacted us, and we were able to include them in our research," says Prof. Bodo Grimbacher, project leader and speaker of GAIN.

>>> Information is available at g-a-i-n.de

FROM RITA STREAMs – PRIMARY IMMUNODEFICIENCIES

IPOPI’S PID LIFE INDEX – The PID environment around the globe

IPOPI is pleased to present the PID Life Index, an index built on 6 key principles of care that measures the status of the primary immunodeficiency (PID) healthcare environment across the globe, displayed in an interactive tool.

The PID Life Index has been established with the co-operation of PID medical specialists and patient leaders from all world regions. The large set of data, provided by IPOPI member organisations and physicians, is displayed through map and data visualisation interfaces that allows users to navigate the index according to their interest. This is a first-of-its-kind care status measurement index in the rare diseases field.

With the PID Life Index, IPOPI aims at showing the status of PIDs at national, regional or global level as well as supporting advocacy initiatives.
The PID Life Index results from a long process of translating the “Principles of Care for Primary Immunodeficiencies”, published in 2014 and establishing the gold standard of care for PID, into the current political and healthcare environment.

>>> Visit the PID Life Index
 


Research project RECOMB had its annual meeting

RECOMB is a research project aiming at creating a novel treatment for RAG1-SCID by performing phase 1 and phase 2 clinical trials using autologous haematopoietic stem cell‒based gene therapy. Each year the partners of the research project come together to discuss the progress made during the past year. This year’s meeting was held online due to the COVID-19 pandemic.

The meeting brought together more than 45 participants representing most of the partners to discuss the progress made by the different working groups. Despite some delays due to the pandemic many partners had made important progress for the project. The meeting also made room for discussions of challenges and potential solutions encountered since the last meeting in 2019. 

RECOMB is a project funded by one of the research programmes the European Commission has made available to researchers in Europe (European Union’s Horizon 2020 research and innovation programme). The aim of RECOMB is to create a novel treatment for RAG1-SCID by performing phase 1 and phase 2 clinical trials using autologous haematopoietic stem cell‒based gene therapy.
NB: This project has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement no. 755170 (RECOMB).

>>> More information on recomb.eu 



IPOPI webinars on Primary immunodeficiencies, at disposal on IPOPI TV


>>> Have a look at IPOPI TV



Genetic testing in PID, speaker Dr Pamela Lee, (Clinical Associate Professor in the Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong).

In attendance Dr. Virgil Dalm (internist-clinical immunologist in the Primary Immunodeficiency centre at Erasmus MC, Rotterdam).


WHIM Syndrome, speaker Prof. Raffaele Badolato, (professor of Pediatrics at the University of Brescia - Italy).

In attendance, Dr Nizar Mahlaoui, (coordinator of CEREDIH, national reference centre for PID at Necker Hospital – Paris).



Primary Immunodeficiencies and secundary immunodeficiences Crossover, speaker Dr Virgil Dalm (internist-clinical immunologist in the PID centre at Erasmus University Medical Centre, Rotterdam).

In attendance Dr. Silvia SÁNCHEZ-RAMÓN, from Madrid (Clinical immunologist, Hospital Clínico San Carlos, Complutense University of Madrid).
 


SARS-CoV-2 COPID-19: international survey, please contribute!

All the stakeholders agree on the fact that the PID community is in need of global data on the way SARS-CoV-2 affects patients with PID. Physicians, please refer your cases. Patients, please inform your physician.

>>> Join COPID19, the Worldwide Survey of COVID-19 in PID patients

ANNOUNCEMENT

Information/Networking Event on EJP RD internal call for innovation projects in clinical trials methodologies in limited populations

In the context of the EJP RD internal call for innovation projects in clinical trials methodologies in limited populations, that opened on 7th of December 2020 and will close on 3rd of March 2021, an “Information/Networking Event” will be organised on the 25th of January 2021. The meeting will take place online from 15:00 to 18:30.

All interested applicants are invited. The objectives of the meeting are as follows: 
  • Presentation of the call modalities and objectives followed by Q&A session with participants 
  • Presentation of various perspectives of the remaining challenges that the present call will target (for example in relation to: use of registries, innovation in methodology space, PCOMS, pharmacogenetic biomarkers and pharmacokinetics development, the vision of regulators on future of RD clinical trials, model for innovating therapy in ultra RDs, ethical guidance) 
  • Open session for participants to discuss the gaps that they would like to tackle and initiate partnerships among interested parties.  
>>> Registration to the meeting is mandatory and will close on the 18th of January 2021.
>>> The detailed agenda of the meeting  
If you have any questions or need help please contact us.
 


International registry on COVID-19 related Hyperinflammation in children and young adults (HyperPED-COVID)

In June 2020 ERN-RITA launched an international European registry on the COVID-19 related Hyperinflammation in children and young adults (HyperPED-COVID, PI M. Gattorno). Patient enrolment has been running since December 2020.

The principal aim of this observational project is to capture the burden of this spectrum of hyperinflammatory conditions related to COVID-19 in childhood. For this reason, a joint effort of ERN-RITA, PReS, ISSAID, ESID, and PRINTO networks has started with the aim to collect standardized clinical data on these patients in a common registry.

A preliminary survey performed in June 2020 among the PRES/ISSAID/PRINTO centres has revealed the presence of 359 patients reported by 100 international paediatric centres.

All the ERN-RITA HCPs and the centres affiliated to each society can include the patients in the registry with a common form that will be available on 2 platforms: PRINTO (for PRES and ISSAID) and ESID.

For the PRINTO platform please contact: printo@gaslini.org

 

International Registry of COVID-19 in people with Rare Diseases

People with a rare disease are a vulnerable group, especially in situations like the current COVID-19 pandemic. The SJD Barcelona Children's Hospital, together with the Garrahan Hospital in Buenos Aires and the Sant Joan de Déu Foundation, coordinate this international registration aimed at reporting those patients who, with the diagnosis of a rare disease, have been treated in addition to infection by the COVID-19.

>>> Registration form

AGENDA

3-5 November 2021 - International Primary Immunodeficiencies Congress - IPIC2021, Berlin

IPOPI is delighted to invite you all to participate in the 5th edition of the International Primary Immunodeficiencies Congress #IPIC2021.

The programme will feature international key opinion leaders in the field and seek to engage our international delegates through thought-provoking and interactive sessions. Topics will include, among others: PIDs and allergies, Management of Gastrointestinal and Hepatic Manifestations, Genetic diagnosis, Malignancy spectrum of PIDs, Autoimmunity and autoinflammation manifestations, Ethical considerations, Viral infections and much more!

>>> Visit IPIC2021.com
 


18-21 April 2022 - 20th International Vasculitis and ANCA workshop – Dublin


The overarching theme of the meeting is "autoimmunity, autoinflammation and immunodeficiency in vasculitis". 


Prof Mark Little and Dr Michael Clarkson, Conference Co-Chairs Vasculitis 2022, declare: “Given the continuing COVID-19 situation, we have made the difficult decision to postpone the Vasculitis and ANCA Workshop. As a community, we understand the need for a conference where we can meet together in person to discuss and share knowledge, so we have decided against hosting a virtual conference. Therefore, we confirm that the Vasculitis and ANCA Workshop will take place on newly scheduled dates, 3-6 April 2022 in Dublin.

We are delighted that our Keynote Speakers Prof. Cornelia Weyand, Prof. Dan Kastner, Prof. Fergus Shanahan, Prof. Dennis McGonagle will all join us in 2022 to deliver the same inspiring programme.

We look forward to welcoming you all to Dublin on 3-6 April 2022.”

>>> Visit vasculitis2022.org
Find out more on https://ern-rita.org
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