ERN RITA supports the European Society of Human Genetics Statement

ERN RITA wishes to express its support to the following statement of the European Society of Human Genetics (ESHG): “Regulation EU 2017/746 (the IVD directive) is a threat to both precision medicine and crisis management if the Article 5-§5 conditions (d)-(i) are not removed”. The new Regulation on in vitro diagnostic medical devices (the IVD directive) will be European law from May 26th, 2022. This means that all industrial producers of diagnostic tests need standard CE marking of tests and instruments.  

In particular ERN RITA supports the view that the new regulation should not hinder the ability we currently have in Europe to identify creative solutions to novel problems in patient diagnostics (as part of precision medicine) or pandemic control, by imposing unnecessarily rigorous and restrictive conditions with regards to the use of “in-house” personalized tests when similar CE marked commercial tests exist.  

CE marking is too cumbersome and expensive for the low-volume “personalized” laboratory tests necessary for precision medicine in the context of rare diseases. Although an in-house exemption to the requirement for CE marking has been made (article 5-§5) in the new regulation, some of the defined conditions (d to i) are problematic especially for new genetic tests such as Next Generation Sequencing, which have become indispensable tools for the diagnosis and treatment of patients with rare diseases. For details see the attached statement of the ESHG.

ERN RITA therefore fully endorses the statement of the ESHG, and strongly recommends that Article 5-§5 conditions (d) to (i) for in-house exemptions are removed from the IVD directive, while conditions (a) to (c) are kept. Failure to do so will increase health care costs and jeopardize Europe’s ability to design precise “personalized” laboratory tests and to adapt to the rapidly shifting requirements of this field.

Nico Wulffraat, coordinator of ERN RITA, on behalf of the ERN RITA Board

27th Watson Study Day

Come and join us in Newcastle city centre for a full day of talks, interactive case discussions and networking opportunities, invaluable to anyone interested in childhood infection and immunity!

Discussing some of the speciality’s hot-topics in research, clinical medicine and public health at home and abroad, this year’s selected speakers include: Dr Ronan Leahy (Dublin), Dr Terry Flood (Newcastle), Dr Scott Hackett, (Birmingham), Dr Rosie Hague (Glasgow), Professor Andrew Gennery (Newcastle), Dr Peter Arkwright (Manchester) and Professor Sophie Hambleton (Newcastle)

Registration is free and lunch is included.

Please do circulate amongst your colleagues, to register please email to secure your place, spaces are limited.

Draft Agenda The 27th Watson Study Day Programme 2019

New conect4children Consortium Selects Inaugural Research Portfolio to Advance Development of Innovative Paediatric Medicines

Novel Cross-sector Collaboration Establishes Pan European Paediatric Clinical Trial Network to Improve Infrastructure and Facilitate Development of Medicines for Children in Europe

PADOVA – 29 April 2019 – The conect4children (c4c) consortium today announced the selection of its first portfolio of pan-European paediatric studies aimed at advancing the understanding of high priority medicines commonly used in babies, children and young people in Europe. The four inaugural studies will be conducted by academic institutions, in addition to three or four studies by industry partners, covering different diseases and age groups.

The study portfolio will leverage the scientific quality, rigor and capabilities of the c4c network, a global consortium of more than 30 academics, 10 industry partners and a network of more than 500 affiliated partners. The research collaboration will be used to build and implement a pan-European paediatric clinical trial network whose goal is to improve the European paediatric clinical trial infrastructure in order to facilitate the development of new, innovative and safer medicines for children in Europe.

The selected studies will implement new ways to:

  • Ensure that the experiences and preferences of children and young people are reflected in clinical trial design and minimise the burden of their participation in research
  • Employ cutting-edge science and implement new, innovative ways to evaluate medicines
  • Demonstrate the value of collaborating across 18 countries, building on a public-private partnership that blends expertise from leading industry and academic partners.

“Building on this portfolio of paediatric research, the c4c consortium aims to enhance the competitiveness of Europe as a critical region for developing medicines for children by using existing expertise, patient access and developing common processes to be applied to disease natural history studies, registries, studies of new therapies and comparisons of existing therapies,” said Professor Mark Turner, University of Liverpool, UK.

About the c4c pan-European paediatric studies:

  • Paracetamol in Premature Babies: Will assess the effectiveness of paracetamol in premature babies with a patent ductus arteriosus, and aims to recruit around 600 babies as part of the study (Lead: Prof. Jean-Christophe Roze of INSERM, a public research organization in Paris, France entirely dedicated to human health)
  • Steroids to Treat Kawasaki Disease: Will assess the effectiveness of adding steroids to standard treatment in children with Kawasaki Disease, and aims to recruit 262 children as part of the study (Leads: Dr. Depsina Eleftheriou and Prof Paul Brogan of the University College of London (UCL), an academic research institution in the UK).
  • Posaconazole in Children with Cystic Fibrosis: Will assess the dose of posaconazole in children and young people with Cystic Fibrosis and infection with Aspergillus and aims to recruit 130 children as part of the study (Lead: Prof. Adilia Warris of the MRC Centre for Medical Mycology, University of Aberdeen and Ospedale Pediatrico Bambino Gesù (OPBG), a children’s hospital in Rome, Italy).
  • Losartan to Treat Osteogenesis Imperfecta: Will assess losartan in children and young people with Osteogenesis Imperfecta and aims to recruit 30 children (Lead: Prof. Nick Bishop of the University of Sheffield, an academic research institution in the UK).


About Innovative Medicines Initiative and c4c

This project has received funding from the Innovative Medicines Initiative 2 Joint Undertaking (JU), Europe’s biggest Public-Private Partnership, under grant agreement No 777389. The JU receives support from the European Union’s Horizon 2020 research and innovation programme and EFPIA (the European Federation of Pharmaceutical Industries and Association).

Under the name c4c, the new research consortium unites pharmaceutical companies, paediatric national networks as well as EU Multinational sub-specialty Networks, large patient advocacy groups, children’s hospitals and other public research organisations from across Europe. The full list of organisations involved in the project can be found at the c4c webpage

For more info on IMI visit and follow on Twitter at @IMI_JU.

Project Office/General Enquires: Email us.

For more information about the research studies, contact:

This communication reflects the views of the c4c Consortium and neither IMI nor the European Union and EFPIA are liable for any use that may be made of the information contained herein


H2020-JTI-IMI2-2016-10. Proposal: 777389

NEW! Severe Combined Immunodeficiency (SCID) EQA Scheme 2020

EMQN are introducing a pilot scheme for external quality assessment (EQA) of molecular testing for Severe Combined Immunodeficiency (SCID) in 2020. The scheme has been organised in collaboration with the ERN-RITA molecular testing working group.

  • The 2020 SCID pilot scheme will be limited to 30 participating laboratories
  • The SCID scheme is designed for laboratories testing gene panels.
  • 3 DNA samples will be distributed with mock clinical scenarios. Samples will include variants in different genes relevant to SCID, for example RAG1/2, ADA, and DCLRE1C. The genes included in the scheme will vary each year.
  • This scheme is suitable for sequence analysis methods (eg. NGS and Sanger)
  • For each case, participants will be asked to return a clinical report which includes clinical interpretation of the results.
  • Genotyping, interpretation, and patient identifiers and clerical accuracy will be assessed.


Please contact for further information

Experts wanted in Human Phenotype Ontology

Human Phenotype Ontology (HPO) and disease ontologies such as OrphaNet aim to provide standardized vocabularies of phenotypic abnormalities and human diseases. HPO and OrphaNet enable efficient patient data exchange and facilitate seamless communication between clinicians and researchers to detect novel disease-causing genes and address phenotype-genotype correlations.

Despite the ongoing efforts, there are still crucial, disease-specific gaps in HPO and OrphaNet disease ontology when describing rare, immunological diseases.

Our initiative brings together geneticists, medical doctors, bioinformatics, and immunologists. Organised into functional working groups, our aim is to systematically re-evaluate and complete HPO and OrphaNet disease ontology terms, and re-annotate diseases. Our kick-off workshop in Vienna from 10-11th September 2018 brought together 20 experts from different fields including geneticists, medical doctors, bioinformatics, and immunologists, both from the ESID Genetics working party, and ERN RITA. The participants reviewed, curated, updated and expanded ontologies for 16 different diseases, and suggested structural changes regarding multiple branches of the HPO tree, including infections, neutrophils and fever-related conditions.

Our next goals are to bring together more experts in order to foster re-annotation of all immune related diseases and re-evaluation of relevant HPO terms, in order to

  1. unify the nomenclature of patient phenotyping
  2. standardize patient characterization: clinician/researcher can characterize patients in a language independent manner
  3. allow for efficient data exchange between clinicians, laboratories and centers
  4. facilitate matching phenotypically similar patients to enable gene discovery
  5. allow for similarity measures across diseases/shared phenotypes.

If you are interested in joining our initiative, please feel free to register on the email list and contact us at:


Join the World PI Week 2019!


Join the World PI Week 2019 “Putting primary immunodeficiency patients at the centre of their care”!  

On the last week of April (22-29 April), people from around the world celebrate the World PI Week campaign, to raise awareness and understanding of primary immunodeficiency. The ultimate goal is to bring about change in policy and healthcare practice and improve the care and quality of life of patients and their families.

This year, patient-centred care is at the heart of the campaign!

There are over 320 different types of primary immunodeficiencies[1] which are estimated to affect over 6 million people worldwide.

People with primary immunodeficiency are all different: their specific health needs should be taken into consideration in their care pathway; and treatments be personalised to their situation.

In patient-centred care, healthcare systems are designed to ultimately benefit patients. The systematic implementation of new-born screening for severe forms of primary immunodeficiency is one example of this, by ensuring that patients can be diagnosed at an early stage.

Beyond, patient-centred care allows for patients and their families to be partners of healthcare providers in the decisions related to their own care and treatment plans.

Learn more about how to engage and participate in the World PI Week here. You will find materials, resources and ideas to help you raise awareness around you and take part in the efforts of the primary immunodeficiency community globally!

More information: or email

[1] The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Flyer World PI Week 2019

Press release World PI Week

Putting patients first in primary immunodeficiency care: celebrate WorldPIWeek!

Brussels, 22nd April 2019 – The 9th World Primary Immunodeficiency (PI) Week campaign starts today, with one key message: let’s deliver care with and for patients with primary immunodeficiency worldwide. 

 Spotlight on patient-centricity

There are over 320 different types of primary immunodeficiencies, affecting over 6 million people worldwide. The types are all different, meaning that each individual requires a personalised approach, focused on his/her specific needs. World PI Week, 22-29 April, is an opportunity to join a global movement calling for patient-centred care for people living with primary immunodeficiency and their families around the world.

Patient centricity means not working around but with patients: patients and their families are partners of healthcare providers in the decisions related to their own care and treatment plans.

Patient centricity requires re-thinking and re-organising services so they are truly oriented to deliver the best value to their end-users, the patients. One example of this is the systematic implementation of new born screening for severe forms of primary immunodeficiency, which ensures that patients can be diagnosed at an early stage.

Patient centricity also means working in a holistic, inclusive way with the multiple actors who play a role in care delivery, from patients and doctors, to allied healthcare professionals, biologists and researchers.

Spreading the word across the globe to deliver change

From today onwards, people on all continents are taking part in the World PI Week by organising events, conferences, family days, TV/radio interviews and many other activities to raise awareness and help bring about change.

Get involved to show support of the primary immunodeficiency community! Join the many individuals living with the disease, their families, healthcare professionals, scientific experts, companies, policy-makers and researchers across the globe who are advocating for a political, societal and healthcare shift towards patient-centricity. This will bring the best outcomes for primary immunodeficiency patients!

Capitalising on its new branding and vision and supported by its active network, the World PI Week 2019 brings positive momentum for action.


Together, bringing about change for primary immunodeficiency patients worldwide!



World PI Week is a global movement to raise awareness of primary immunodeficiency and related challenges; promote quality of life for people with primary immunodeficiency, early diagnosis, availability and access to treatment and care worldwide; and stimulate communication and advocacy around primary immunodeficiency.


Primary immunodeficiencies are rare diseases which occur when a person’s immune system is absent or does not function properly. When a defect in the immune system is inherited (carried through the genes), it is called primary immunodeficiency. There are over 320 forms of Primary Immunodeficiency (PI or PID), ranging widely in severity.

Primary Immunodeficiency often presents in the form of “common” infections, sometimes leading physicians to treat the infections while missing the underlying cause, allowing the infections to reoccur, and leaving the patient vulnerable to vital organ damage, physical disability, and even death.

For more information, please visit, follow us on Twitter @WorldPIWeek.

Press contact:
Bénédicte Faure, campaign manager :