Registry Working Party
ESID Registry - Newsletter August 2019
by Mikko Seppänen
Primary immunodeficiencies (PIDs) or inborn errors of immunity are chronic, lifelong, inherited disorders that result in impaired adaptive and/or innate immune responses caused by mutations in more than 400 currently known genes. Both affected children and adults have increased susceptibility to recurrent and/or severe life-threatening infections, autoimmunity, autoinflammation and malignancies.
1. Plan and apply to perform ESID studies!
ESID Registry is the key component of our society, its most valued asset and an essential tool for all PID doctors contributing to ESID. The finances of the Registry are secure until 2020, and all in the current ESID Board are highly committed in keeping it alive. Not only are the numbers of known PIDs growing, so is ESID Registry. It represents the largest PID database in the world, with >30,000 PID patients. Also, our network is growing steadily, with more documenting centers joining. Registry currently comprises >200 documenting centers across Europe and its neighboring areas.
However, the number of publications is not following the pace with which the Registry is expanding. Some publications are from the national registries, with altogether 35 PubMed-referenced publications to date. ESID Registry Steering Committee/Working Party (SC/WP) and ESID Board thus encourage you all to apply for and launch studies by using it!
2. Changes due to GDPR
Documenting of new patients has been slowed down or halted in many EU documenting centers due to the demands posed by EU General Data Protection Regulation (GDPR). We are currently, with the generous help of many of you, in the process of translating the in Freiburg accepted patient consent forms into hopefully all languages represented by our documenting centers. These may then be used (and found from our website), when applying for ongoing local permits and in discussions with local data security officials. In case you are willing to help in this process, to speed it up, feel free to contact us at .
3. Advisory Council
Also, both Registry SC and ESID Board are concerned about how effective is our communication with the national (and large regional) PID Registries? We need to give you a mechanism for feedback on proposed changes and to update you on what may be planned, to enable frictionless and fruitful collaboration. We thus felt that important advice could be gained if National (or regional, if national does not yet exist and there are only large regional ones) Registries - from all countries participating in ESID - would appoint their chairs as national representatives to an ESID Registry Advisory Council under the Registry SG.
The Council members would then receive e-mails and thus comment on any projected changes! These countries would not necessarily be restricted to EU. Thus, all countries that wish to join ESID Registry - and may legally and technically do so - are encouraged to appoint Advisory Council Members. When doing this, please contact and Catharina Schütz ( ).
4. ESID Registry and ERN RITA Registry
ESID Board is currently negotiating and planning close collaboration with the projected ERN RITA Registry (see https://eu-rd-platform.jrc.ec.europa.eu/). ERN Registries plan to be built on top of existing registries, and not to replace them. Thus, collaboration would potentially be highly beneficial for the PID patients for whose care we toil, for science and for PID care. It would also spare all documenting centers from double/triple/quadruple documenting. The Board strongly feels that its democratically elected members (changing regularly) would need to be closely involved in all registry collaboration at all levels, when ERN RITA Registry will be implemented. We will inform our members on potential progress later.
With Best Wishes,
ESID Registry Working Party Chair