ERICA Newsletter Spring 2022 ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏ ͏
The 24 European Reference Networks (ERNs) for rare and complex diseases are united to support all Ukrainian patients website provides information on each of the 24 ERNs as well as general information & news


The European Rare Disease Research Coordination and Support Action (ERICA) 1 year!


On March, 1st 2022 it has been already one year ago that the European Rare Disease Research Coordination and Support Action (ERICA) started officially! The aim of the ERICA consortium, in which all 24 European Reference Networks (ERNs) take part, is to build on the strength of the individual ERNs and create a platform that integrates all ERNs research and innovation capacity.

Thank you everyone who have contributed to that great start and hope to see you at the ERICA General Assembly 21-22th June 2022 in Bologna!


What has been achieved:

It has been a challenging year due to Covid circumstances, but nevertheless a very productive year with great start of the different Work Package(WP)-specific activities and their Expert Working Groups(EWGs). Great work has been done by ERICA’s enthusiastic WP-leads/board members and active participants, supported by our very representative Advisory board

Telemeetings, telemeetings...

ERICA WP6meeting with logo

WP1 Consortium Management

One of the main overall objectives of ERICA is to facilitate the research collaboration between the ERNs. ERICA WP1 main objective is to integrate and align the research activities of ERNs. To this end, a common ERN research roadmap has been developed and provided for ERNs with specified collaborative actions and adopted positions. ERICA is also closely liaised with European Joint Programme of Rare Diseases (EJP RD) and the goals are aligned with the International Rare Diseases Research Consortium (IRDiRC).

WP2 Data Collection, Integration and Sharing

ERICA WP2 has focused on very concrete support and consent documents for the ERN registries (e.g. unified consent form) and to define general principles on the data that is managed across the ERNs and the registries. WP2 works towards ERNs Data Strategy and has set up several workshops to define the ERNs need to address by collecting health data. Biobanking EWG is to provide methodological and operational guidance for ERN-wide biobanking projects. The Survey has been launched to provide a first overview of existing resources for biobanking within ERNs.


WP3 Patient-Centred Research

ERICA WP3 main aim is to facilitate the Europe-wide implementation of standardized Patient-Centred Outcome Measures (PCOMs) and Patient Reported Outcome Measures (PROMs) for rare diseases, while ensuring the involvement of the ERNs Health care providers and RDs patient community in their development and validation process. Aims to create a central repository of (validated) common and domain-specific RD PROMs for ERNs and to define priority areas for future PROMs development. Patient Centred EWG (PCEWG) kick-off meeting was held in March (videos, presentations available).

WP4 Clinical Trial Support

Clinical trial (CT) support and coordination is the topic being addressed in ERICA WP4. There is a need for knowledge mapping of currently available innovative opportunities, procedures, and methodological solutions for trial implementation in RDs. Close collaboration with projects fostering these activities such as EJP RD, BBMRI and ECRIN, patient organisations, regulators (EMA and NCAs), as well as international initiatives such as the IRDiRC network of public and private research funders and clinical research networks like RD-CRN in the US, have resulted in Joint training Webinars that are re-viewable. 


WP5 Translation and Innovation

ERICA WP5 supports the process of translating the discoveries made in the clinic and laboratory into new diagnostic and therapeutic interventions for rare diseases. The Innovation EWG (IEWG) has held its first kick-off meeting and will work closely with ERICA Innovation Advisory Board, consisting of external stakeholders from industry and biotech. The First Innovation Workshop will be held at the ERICA GA in Bologna, where also success stories are presented. The stories are focusing on : drug repurposing, drug development, preclinical Research and clinical trials.

WP6 Integration, Outreach&Dissemination

One of the key features of ERICA WP6 is to design an interactive ERN Research web-based platform together with Orphanet and all ERNs. Together with Orphanet the specific data is collected and validated for the annotation for the ERICA platform. In specific, it was decided to first focus on the data of ERN clinical practice guidelines and clinical decision support tools, that are collected and validated.  The data validation pilot is currently ongoing  with the date of two ERNs : Endo-ERN and MetabERN. 

ERICA new matchmaking tool for ERN Research proposals: The Inter-ERN Research Wall

ERICA aims to promote collaborative inter- ERNs research projects. It is therefore crucial to have a centralised location to announce any new project and search for collaborators. A specific web page has been created for this purpose on the ERICA website Research Wall

ERICA Research Wall

It provides basic information about the open calls for collaboration as well as contact details of the project PI. Please note that only inter- ERNs collaborative projects will be advertised via this research wall.

The new projects will be regularly announced in the ERICA newsletters and on Twitter.  Additionallyif you wish to receive updates directly by email, we kindly ask you to REGISTER HERE


Journal of Rare Diseases (JORD)


Happy to share: the birth of the Journal of Rare Diseases (JORD), published by Springer

Journal of Rare Diseases is an open access, peer-reviewed journal with clinical and basic research interests in rare and genetic diseases. The journal welcomes submissions in all fields of rare diseases. In addition to original research articles, the journal publishes reviews, letters to the editor, case reports, and short communication, thereby providing a forum for discussions on cutting edge perspectives in the field of rare diseases.

JORD has the advantages of being an open access journal with rapid handling of submitted manuscripts and NO article processing charges.

EJPRD logo

ERN Research Mobility Fellowship Funding Opportunity: Now open!

EJP RD is thrilled to announce the opening of the next call for Research Mobility Fellowships on May 2nd, which aims to support PhD students, postdocs and medical doctors in training, to undertake scientific visits fostering specialist research training outside their countries of residence.

Deadline for submission of application: 13 June 2022!



The exchange can be carried out (1) within the same ERN (Full Members and Affiliated Partners), (2) between different ERNs (Full Members and Affiliated Partners), or (3) between ERN Full Members / Affiliated Partners and non-ERN institutions.

Either home or host (secondment) institution must be a Full Member or Affiliated Partner of an ERN at the time when the application is submitted, as well as during the proposed period of the training stay.

Successful applicants should acquire new competences and knowledge related to their research on rare diseases, with a defined research plan and demonstrable benefit to the ERN of the home and/or host institution.

The research mobility fellowships are meant to cover stays of 4 weeks to 6 months duration.

MOOC (4)

MOOC on Diagnosing Rare Diseases: from the Clinic to Research and back

The third run of the MOOC (Massive Open Online Course) "Diagnosing Rare Diseases: from the Clinic to Research and back" co-developed by EJP RD, ERN IthacaERN GENTURIS and the French Foundation for Rare Diseases has opened on April 18thRegistration is free and open at this link


We specifically encourage medical and biomedical science students to register and follow the MOOC. The topics covered include:

  • The diagnostic process and the types of genetic tests available for rare diseases
  • The differences in rare genetic diseases patient pathways
  • Technological advances for diagnostic research
  • The role of collaborative studies and data sharing in rare diseases diagnosis
  • The impact of having a diagnosis or lacking a diagnosis on patients’ lives
  • The role and place of physiopathology approaches as well as social sciences research in the context of rare diseases diagnosis.

Explore the Rare Diseases Clinical Trials Toolbox

  Clinical Trials Toolbox

Drug development programmes in rare diseases have many challenges, some of which differ from those facing researchers working on common diseases, like the lack of clinical research experts and the scarcity of patients. Moreover, academic sponsors and investigators end up getting involved not only in the scientific aspects of the research but also having to navigate the operational coordination and management themselves. The Rare Diseases Clinical Trials Toolbox has been developed as a practical aid for developers of clinical trials on medicinal products for human use regardless of therapeutic area.


ERICA 2nd General Assembly, 20-22 June 2022, Bologna, Italy

  Bologna venue


All ERICA beneficiaries, ERN representatives, Expert Group members, Advisors and partners will gather to a face-to-face symposium to discuss the progress and future of the ERN related Research activities and to participate in plenary sessions and through participation in the WP-Specific Expert Working Group sessions.

Registration open!


ERICA WP3 ‘Patient centred research’ Expert Working Group Kick-off Meeting

WP3 PCEWG meeting  

Two days Kick-off meeting was held in early march and during the 2 sessions the team and participants discussed about PROMs for Rare Diseases and how to build an accessible repository. Session I was dedicated to present the work done so far for the identification and codification of instruments for the assessment of Patient Reported Outcomes (PRO) in rare diseases (RD). Session I provided the frame for an open discussion in Session II to better understand and define the RDs community needs, in terms of building a repository of PROMs for RD. You can find more info and view the slides and videos of the sessions via below links:


EJPRD- ERICA Joint Workshops “Finding RD registry data in the Virtual Platform”


Several workshops have been held jointly to test the EJP RD Virtual Platform (VP) first version and to provide feedback and address any further open questions. During the second WS the different approaches of making data and cases safely findable via VP were described, along with a short technical overview of how this is achieved. During the 3rd WS the feedback received from the ERN registries on the level of discovery that should be authorised for either anonymous or authenticated users of the VP were discussed, and other practical aspects of engaging with the VP.  In addition to offer the various stakeholders susceptible to interact with the VP  and to discuss the opportunities, challenges and type of collaboration envisioned.

Close collaboration with European Commission and the European Rare Disease Registry Infrastructure (ERDRI) to make best use of already existing tools and infrastructures.


Training Webinar: Does Randomization matter in RD clinical trials?


As part of the EJP RD Training series and ERICA WP4 'Clinical Trial Support', an advanced-level training webinar was held on the topic “Does Randomization matter in RD clinical trials?” (held on 14.12.2021) The video is available now! The training consists of two parts: a 1.5-hour training in less frequently applied randomization procedures and their performance on the level of evidence, followed by 1 hour of panel discussion with experts from regulatory, pharma-industrial, academic, and clinical fields.


Stay Tuned!

All news and events are available at ERICA website. Check our ERICA website regularly for news updates and keep an eye on upcoming and previous events that can be reviewed! Disseminate relevant news to your network and subscribe to our Newsletter.



Want to know more about ERICA ?

Contact The ERICA Coordination  for more info and input for the ERN related activities to promote and present the most recent updates from ERICA!


Follow also ERICA on Twitter!