gms | German Medical Science

50. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie (gmds)
12. Jahrestagung der Deutschen Arbeitsgemeinschaft für Epidemiologie (dae)

Deutsche Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie
Deutsche Arbeitsgemeinschaft für Epidemiologie

12. bis 15.09.2005, Freiburg im Breisgau

The ESID Online Patient and Research Database

Meeting Abstract

Suche in Medline nach

  • B. Grimbacher - Medizinische Universitätsklinik Freiburg, Freiburg
  • Viviane Knerr - Medizinische Universitätsklinik Freiburg, Freiburg

Deutsche Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie. Deutsche Arbeitsgemeinschaft für Epidemiologie. 50. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie (gmds), 12. Jahrestagung der Deutschen Arbeitsgemeinschaft für Epidemiologie. Freiburg im Breisgau, 12.-15.09.2005. Düsseldorf, Köln: German Medical Science; 2005. Doc05gmds653

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Veröffentlicht: 8. September 2005

© 2005 Grimbacher et al.
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The European Society for Immunodeficiencies (ESID) is a non-profit organisation which aims to facilitate the exchange between people concerned with Primary Immunodeficiencies (PID) such as physicians, nurses, biomedical investigators, patients and their families. For all these groups of people, ESID provides professional information and useful help. ESID also supports the research on causes, mechanisms and treatment of PIDs and bring doctors up-to-date in regard of diagnosis, pathogenesis and therapy. For this purpose, summer schools, scientific meetings and trainings are organized regularly.

Another aim is to intensify the overall awareness of Primary Immunodeficiencies. Quite recently a joint working group of ESID-board members and delegates from organisations like EFIS (European Federation of Immunological Societies), IPOPI (International Patient Organisation for Primary Immunodeficiencies), JMF (Jeffrey Modell Foundation) and INGID (International Nursing Group for Immunodeficiencies) have been successfully carrying out a series of campaigns in order to increase the interest of EU health policy in PID. These activities led to the support of the ESID online clinical and research database within the 6th framework program of the EU. This project called EU-POLICY-PID was launched in February 2005 and has four key objectives: To increase the understanding of the aetiology of PID and identify novel mutations and new disease genes (1), to carry out epidemiological studies in order to determine the prevalence of PID in Europe (2), furthermore the project wants to establish and evaluate harmonised guidelines for the diagnosis and treatment of PID (3) and to improve the awareness of PID among the European population (4). The ESID online database is a new, secure, internet-based patient database, which will help to achieve these aims by bringing together clinical and laboratory data of PID patients. Diagnosis, classification, prognosis and therapy will be improved by making the data of different centres more easily accessible to others and assuring detailed long-term documentation and facilitating large genetic and therapeutic trials by obtaining follow-up data. It is also the basis for EU-POLICY-PID to establish standard European guidelines and procedures for setting up clinical patient and research databases.

How does the database work, what does it offer to the user?

The ESID online database allows the documentation of patients with any primary immunodeficiency into an online system that provides a common dataset for almost 180 primary immunodeficiencies. In this so-called core dataset, the diagnosis, therapy and laboratory data, leukocytes, thrombocytes, erythrocytes, lymphocytes, granulocytes, hemoglobin, eosinophils, basophils, macrophages, IgG, IgA, IgM, CD3, CD4, CD8, CD19 or CD20 and CD56 is stored. Specific fields are subject to an annual reimbursement of 10 Euro provided by the PPTA, another sponsor of the project. This payment is meant to compensate for the secretarial work of entering the data.

By accessing the website, a tree of PID diagnosis becomes visible and the user is asked to select the subregistry in which he/she wants to document a new patient. The PIDs are grouped in seven categories which are: predominantly antibody disorders, predominantly T-cell deficiencies, phagocytic disorders, complement deficiencies, other well defined PIDs, autoimmune and immunedysregulation syndromes and unclassified immunodeficiencies.

By selecting the category, the tree expands and more defined subclasses appear. For the subregistries which are marked in red, a large disease-specific data model is available. Experts from all over Europe work in more than 40 steering committees on the creation of data models which reflect the characteristics of the various PIDs. So far, seven subregistries feature an extended dataset: common variable immunodeficiency (CVID), DiGeorge syndrome, Nijmegan breakage syndrome, centromere instability and facial abnormality syndrome (ICF), Hyper IgE-syndromes, ICOS deficiency and secondary hypogammaglobulinemia. Eight more are presently being programmed and will be online soon (immune dysregulation polyendocrinopathy X-link syndrome (IPEX), X-linked agammaglobulinemia (XLA), severe combined immunodeficiency (SCID), Hyper IgM Immunodeficiency, IgA deficiency, osteopetrosis, ataxia teleangiectatica (AT), transmembrane activator and calmodulin interactor (TACI)).

The system wants to be userfriendly. In this respect, the database is available online, which implies that a standard browser is sufficient to access it and the user will neither have to invest in any technical equipment nor download additional software. Apart from that, the handling of the database is kept as clear and simple as possible: A great number of “Tool tip”-buttons have been implemented to clarify the function of individual fields. The database also offers the opportunity to edit the drop-down-menus of certain fields. Thus the user can add specifications considered to be relevant.

Another novelty to be implemented in the near future is the ESID Mutation Detection Tool, which is a multicomponent system for the deposition of genetic mutation data. It directs the user via an SSL-encrypted connection to the “IDbases” in the Institute of Medical Technology in Tampere, Finland. There, the gene mutation event is deposited and validated and automatically submitted back to the ESID Mutation Web Service, which matches the validated data with the ESID online database. The exchanged data is coded and contains no personal patient information, thus the data received in Finland is anonymous. Currently, this tool works with genomic DNA and cDNA and includes information related to the number of affected alleles where applicable. This tool support is planned to be extended to approximately 90 subregistries.

The ESID database is meant to be the future basis for all kinds of surveys on primary immunodeficiencies. The fields that are considered relevant to such a survey are being defined in the respective steering committees and highlighted on the user interface using a colour coding scheme: Fields will be tinted in a preassigned colour and are thus clearly recognizable for the user.

Different easy-to-use query tools that will enable the users to run queries themselves will also be implemented in the near future.

At the moment it is essential to attract documenting centres for the project, so that data on as many patients as possible can be deposited in the database. Currently 46 documenting centres in 24 countries have obtained passwords for the online documentation. Not all of them have started entering their patients yet, but so far a total number of 1000 patients have been documented by July 2005. Large numbers of patient data (approx. 350) have been imported electronically from the Italian National PID Register (AIEOP). Another international CVID-register compiled by Dr. Lennart Hammarstrom in Stockholm, Sweden, with 519 patients will be integrated successively in the ESID-CVID-subregistry once patients consented.

Security and data protection

Due to the lack of a centralized European data protection and ethics board, the concept of this European Online Database is to pass the local ethics and data protection committees. All necessary security facilities have been provided, so that the system has already been approved in 46 documenting centres. The data is stored on a password-protected internet server which runs within a secure server network in Freiburg, protected by an audited firewall system. All patient data is coded, i.e. the identification of an individual patient is impossible, except for the treating physician. Only patient data relevant to the medical condition (age, laboratory and examination results) is stored and processed automatically. The patient’s personal data (name, place of residence) is currently not recorded. In addition, genetic data relevant to the medical condition is stored anonymously in the long-established mutation database (Mutbase), created for the documentation and analysis of mutations involved in immunodeficiencies. All data transmission is SSL-encrypted. Not all database users are authorized to see all fields. The system of user roles assigns different access rights to different users: During the login process the profile of the respective user and his rights within the web application are determined. This means that a specific user will only see those fields for which he has been authorized. This authorization process takes place within the ESID board.

Before patient data can be entered into the database, the patient has to be informed and consented. Informed patient consents in 17 different languages are provided on the ESID-website (

The ESID database will provide the platform for future awareness programs, diagnostic and therapeutic trials, drug surveillance programs and quality of life assessments in the field of primary immunodeficiencies. To achieve this ambitious goal, the ESID registry working party is constantly improving and enhancing the functions of the database that provide a mature instrument for the documentation of patients. However, for the benefit of all users and that of the patients, the ESID online database needs to be filled with patient data. 46 documenting centres are already contributing to the success of this European project and ESID is confident that more participants will sign up in the near future since many centres all over Europe have already signalled interest.