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. 2020 Oct 7;8(10):e17420.
doi: 10.2196/17420.

Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry

Raphael Scheible  1   2 , Dennis Kadioglu  3 , Stephan Ehl  2 , Marco Blum  1 , Martin Boeker  1 , Michael Folz  3 , Bodo Grimbacher  2   4   5   6 , Jens Göbel  3 , Christoph Klein  7 , Alexandra Nieters  2   8 , Stephan Rusch  2   8 , Gerhard Kindle #  2   8 , Holger Storf #  3
Affiliations

Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry

Raphael Scheible et al. JMIR Med Inform. .

Abstract

Background: The German Network on Primary Immunodeficiency Diseases (PID-NET) utilizes the European Society for Immunodeficiencies (ESID) registry as a platform for collecting data. In the context of PID-NET data, we show how registries based on custom software can be made interoperable for better collaborative access to precollected data. The Open Source Registry System for Rare Diseases (Open-Source-Registersystem für Seltene Erkrankungen [OSSE], in German) provides patient organizations, physicians, scientists, and other parties with open source software for the creation of patient registries. In addition, the necessary interoperability between different registries based on the OSSE, as well as existing registries, is supported, which allows those registries to be confederated at both the national and international levels.

Objective: Data from the PID-NET registry should be made available in an interoperable manner without losing data sovereignty by extending the existing custom software of the registry using the OSSE registry framework.

Methods: This paper describes the following: (1) the installation and configuration of the OSSE bridgehead, (2) an approach using a free toolchain to set up the required interfaces to connect a registry with the OSSE bridgehead, and (3) the decentralized search, which allows the formulation of inquiries that are sent to a selected set of registries of interest.

Results: PID-NET uses the established and highly customized ESID registry software. By setting up a so-called OSSE bridgehead, PID-NET data are made interoperable according to a federated approach, and centrally formulated inquiries for data can be received. As the first registry to use the OSSE bridgehead, the authors introduce an approach using a free toolchain to efficiently implement and maintain the required interfaces. Finally, to test and demonstrate the system, two inquiries are realized using the graphical query builder. By establishing and interconnecting an OSSE bridgehead with the underlying ESID registry, confederated queries for data can be received and, if desired, the inquirer can be contacted to further discuss any requirements for cooperation.

Conclusions: The OSSE offers an infrastructure that provides the possibility of more collaborative and transparent research. The decentralized search functionality includes registries into one search application while still maintaining data sovereignty. The OSSE bridgehead enables any registry software to be integrated into the OSSE network. The proposed toolchain to set up the required interfaces consists of freely available software components that are well documented. The use of the decentralized search is uncomplicated to use and offers a well-structured, yet still improvable, graphical user interface to formulate queries.

Keywords: collaboration in research; data findability; registry interoperability; registry software.

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Conflict of interest statement

Conflicts of Interest: None declared.

Figures

Figure 1
Figure 1
This illustration shows the different components of the OSSE and how they work together. Each registry, based on the OSSE metadata repository (MDS), models its data. The decentralized search broker publishes search inquiries to all selected known registries. Finally, the collaboration client of the selected registries searches for matching data. OSSE: Open Source Registry System for Rare Diseases (Open-Source-Registersystem für Seltene Erkrankungen, in German).
Figure 2
Figure 2
Connecting PID-NET via an OSSE bridgehead. The same structure could be used for any non-OSSE registry. ETL: extract, transform, and load; OSSE: Open Source Registry System for Rare Diseases (Open-Source-Registersystem für Seltene Erkrankungen, in German); PID-NET: German Network on Primary Immunodeficiency Diseases; REST: representational state transfer; XSD: XML Schema Definition.
Figure 3
Figure 3
The graphical implementation of the first question, "Which male patients have ever received hematopoietic stem cell transplantation (HSCT)?" MDR: metadata repository.
Figure 4
Figure 4
The graphical implementation of the second question requires nested constraints. The second question is "Which patients have a common variable immunodeficiency (CVID) as their most recently documented primary immunodeficiency (PID) diagnosis, or are still receiving immunoglobulin (Ig) replacements at initial registration or during follow-up?" MDR: metadata repository.
Figure 5
Figure 5
The local collaboration client, which is part of the OSSE bridgehead installation, lists all incoming inquiries. Further, one sees the date of last execution (As of) as well as the number of matching patients (Matching datasets). CVID: common variable immunodeficiency; fu: follow-up; HSCT: hematopoietic stem cell transplantation; IG: immunoglobulin; init: initial registration; OSSE: Open Source Registry System for Rare Diseases (Open-Source-Registersystem für Seltene Erkrankungen, in German).
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