Copy
d1089e89-36b8-47e8-9f7d-979a62798cc1.jpg 54fd7b31-8dc1-42ae-9c7e-4019164a6ddc.jpg

EUROPEAN NETWORK ON RARE PRIMARY IMMUNODEFICIENCY, AUTOINFLAMMATORY AND AUTOIMMUNE DISEASES

contact-rita@ern-net.eu Follow Us Twitter icon

fOREWORD From the coordinator

 
Dear member, dear colleague,

I am happy to present you the third ERN RITA newsletter. 
January 2020 was a good start for the RITA network with a very inspiring RITA Annual Event. 

However, situations can change quickly and unexpectedly and currently we face many new challenges. It is good to see how flexible and adjustable our RITA partners are in dealing with the Covid-19 situation. I strongly believe that ERNs in general and our RITA network in particular will play a supporting role and contribute in finding solutions for the Covid-19 challenges. Especially close collaboration of RITA with the existing scientific organisations such as PRES, ESID, ISSAID and our patient organisations is of great value here!
 
Nico Wulffraat,
Coordinator of ERN-RITA

ERN-RITA ACTIVITIES

RITA annual event 17-18 January 2020 in Utrecht



ERN RITA organised a successful two-day event for all members on 17 and 18 January 2020 in Utrecht. 

ERN RITA is developing and growing, and this event was aimed at strengthening the network, engaging more network members, enhancing collaboration within and among the 11 Working Groups, the 4 Disease Streams, HCPs, professional societies and patient groups.


 

Clinical guidelines Working Group – publication of complement guideline on Deficiencies, diagnosis and management

The Clinical Working Group (in collaboration with ESID) has published a guideline last February, in The Journal of Clinical Immunology

Title: European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune diseases (ERN RITA) Complement guideline: Deficiencies, diagnosis and management

Authors: Nicholas Brodszki, Ashley Frazer-Abel, Anete S Grumach, Michael Kirschfink, Jiri Litzman, Elena Perez, Mikko RJ Seppänen, Kathleen E. Sullivan, Stephen Jolles.


 

New members

Currently, the evaluation process of new ERN members is ongoing. Due to Covid-19, there will be a delay and new members are expected to join in Spring 2021 the earliest. 

 

Patients representation in RITA working Groups

From ERN-RITA working groups

research working group: welcome to new chair, prof. Anne-Sophie Korganow

Recently prof Paul Brogan, UCL stepped down as the chair research working group. We thank him for his commitment. We remain confident that we will find ways to keep the collaboration with the UK alive! 

ERN RITA is glad to announce that Prof. Anne-Sophie Korganow MD, PhD, has stepped in. 

Anne-Sophie is Professor of clinical immunology, Department Head, National Referral Center for Systemic Autoimmune Diseases (RESO), Referral Center for Primary immunodeficiencies, Strasbourg. We welcome her and wish her an eventful participation. 

Please contact her with your proposals and questions on scientific collaboration and joint grant applications.

CPMS - clinical patient management system

Technical support offer

Every Tuesday from 3:30pm, the members of the RITA IT Helpdesk team are available on Webex for consultations and help with technical issues regarding CPMS.

Whether you are struggling with access, creating your first panel, or anything else CPMS related, do not hesitate to get in touch with the Helpdesk team for Webex details or a possibility to schedule a different date. 

FROM ERN-RITA STREAMS - PID

Global Survey on COVID-19 in PIDs

With the emergence of SARS-CoV-2 and the COVID-19 pandemic, there is an urgent need to understand the impact of infection on immunodeficient individuals. Whilst co-morbidities (such as diabetes, cancer, arterial hypertension, heart disease...) have been documented in people infected with SARS-CoV-2, there is currently no information on the consequences and outcomes for individuals with primary immunodeficiencies (PID).

Following the 1st phase of the survey (launched by Isabelle Meyts (ESID), Nizar Mahlaoui (CEREDIH & IPOPI) and Kate Sullivan with Stuart Tangye (IUIS), that gave an idea of the number of affected PID patients and the impact of SARS-CoV-2 and directly focusing on obtaining this top level of information), we are launching the 2nd phase: "COPID19".

COPID19 survey is a secured online GDPR compliant platform based in Paris (Imagine Institute). It has been approved by the Paris-Necker-Enfants malades IRB and Ethics Committee.

>>> Take part in this survey


 

COVID-19: a global joint statement for PIDs

In light of the ongoing COVID-19 outbreak IPOPI, ESID, INGID, APSID, ARAPID, ASID, LASID & SEAPID has released a joint statement on the pandemic of SARS-CoV-2 as of 10th March. It has been updated on April 12th. 

The ongoing situation raises many questions for you and your members and we hope that this statement will answer many of them.

>>> Read more


 

Italy, IPINET: publication on long-term follow-up of patents with X-linked agammaglobumlinemia (XLA)

IPInet, (Italian Primary Immunodeficiency network) has coordonated a nationwide longitudinal collaborative study, to better define the natural history of XLA. This study includes 168 patients, largest cohort to date, with the longest follow up so far reported. Several authors are members of RITA.

>>> Read more


 

10 years of World Primary Immunodeficiencies Week (WPIW)

In 2020 the global awareness campaign World PI Week, taking place 22-29 April, celebrates its 10th year of collaboration by primary immunodeficiency (PID) stakeholders from all over the world. Given the COVID-19 circumstances, the campaign is aimed at lasting10 weeks to allow the stakeholders to reschedule their actions when needed… 

The objective of the 2020 campaign is to highlight and celebrate great successes and important milestones from the past 10 years as well as feature the expectations and work that still lies ahead. The campaign invites patients and families, health care professionals, policy makers and all other PID stakeholders to participate to make this year the best one so far. To facilitate participation the WPIW campaign offers its participants easily accessible materials such as a campaign poster, logo, e-banner and much more, all available on the WPIW website. The WPIW steering committee with members such as IPOPI, ESID and many others has also participated in Rare Disease Day on 29 February by releasing a statement with the clear message that although considered rare, the PID community is strong, proud and active. 


 

Germany: Newborn screening for severe combined immunodeficiencies works

The German national newborn screening for Severe Combined Immunodeficiencies introduced in August 2019 has come up to expectations. 

Five months after the start of newborn screening for Severe Combined Immunodeficiencies (SCID) in Germany, experts are very positive about its introduction. It is now part of the general newborn screening that is performed on the third day of life on all children. An expert group from the Working group for Pediatric Immunology (API) was significantly involved in the introduction of the system. While the disease can lead to severe infections and even death if left untreated, 90 per cent of those affected can be cured if the disease is treated before the symptoms occur. Since the introduction of screening, several children have already been treated even before the consequences of the immunodeficiency occurred.

>>> More information (in German)

 


EU 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.


 

The SCIDNET research project coming to an end

For the past 5 years, IPOPI has been involved in the EU-funded project, SCIDNET*, which aims at the development of gene therapy for very severe forms of primary immunodeficiency called SCID.

SCID or severe combined immunodeficiency is a devastating group of rare disorders by which the child is born without a functional immune system. With its participation, IPOPI tried to bring the patient’s perspective into the development of this innovative treatment for diseases lacking this therapeutic option. Although SCIDNET is now coming to an end, IPOPI still remains committed to bring the patient’s input into the development of new gene therapies for PIDs by its active participation in RECOMB**, an EU-funded project aimed at developing hematopoietic stem cell-based gene therapy through a multicentre clinical trial for the treatment of RAG1-SCID.


*SCIDNET has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement SCIDNET (No 666908). >>> More information
**RECOMB has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement n° 755170. >>> More information

FROM RITA STREAMS - AUTO-Immune

AUTO-IMMUNITY - A COVID-19 Task Force

The UKIVAS team have set up a ‘COVID-19 Task Force’ which, in partnership with the Irish Rare Kidney Disease (RKD) Registry, is leading data collection across the UK and Ireland for patients with vasculitis and COVID-19.

Two streams of data collection are being established: a new online module of the UKIVAS web application for COVID-19 data is rapidly being built and a matching Case Report Form has been developed to allow fully anonymous data to be collected at sites not yet affiliated with UKIVAS.

In the immediate term, weekly reports including case vignettes, clinical insights and focused literature reviews will continue to be disseminated. In the longer term, we aim to share a quantitative analysis including distribution of clinical features and factors which might determine disease severity.
 
For more information please get in touch.

 


ERN RITA is a partner on the FAIRVASC EU grant which aims to link all the vasculitis registries in Europe

The objectives of FAIRVASC are [1] to enable FAIR access to a network of seven AAV registries across Europe as a European research resource, [2] to facilitate the addition of further registries to this network in the future, and [3] to demonstrate the value of this new resource by conducting a cross-registry study that informs better therapy choices for AAV patients.

Key characteristics of FAIRVASC Working Programme:
  • FAIRified registries
  • Federated data for simple exploration
  • Specific-purpose data pools for intensive analytics
  • Emphasis on Legal and Ethical issues 
  • Use of Semantic Web technologies 
  • Choice of AAV and of Demonstrator Study 
For more information please get in touch.

good to know

Funding & tender opportunities from the European Commission

This platform is a one-stop shop providing comprehensive information about funding opportunities in relation to Coronavirus at European Union and national level. It offers continuously updated information about Horizon 2020 call deadline extensions, specific or related to Coronavirus funded and ongoing projects, FAQs and other useful links. In cooperation with country correspondents, the platform maintains a dedicated section for national activities, funding opportunities, initiatives and projects in the Member States and other European countries.

>>> More information

save the date

SEPTEMBER 2020

26th PReS Congress taking place on 23 -26 September 2020 in Prague, Czech Republic 

>>> More information
 

 

NOVEMBER 2020

Autoimmunity 2020: 12th International Congress will take place in Athens, Greece on 28 november-1 December. 

>>> Registration

 

Find out more on http://rita.ern-net.eu
ERN logo EU logo RITA logo






This email was sent to <<Email Address>>
why did I get this?    unsubscribe from this list    update subscription preferences
ERN RITA · UMC Utrecht · Heidelberglaan 100 · Utrecht, 3584 CX · Netherlands

Email Marketing Powered by Mailchimp