Journal of Digital Imaging

, Volume 27, Issue 6, pp 702–713 | Cite as

Integrated Image Data and Medical Record Management for Rare Disease Registries. A General Framework and its Instantiation to the German Calciphylaxis Registry

  • Thomas M. DesernoEmail author
  • Daniel Haak
  • Vincent Brandenburg
  • Verena Deserno
  • Christoph Classen
  • Paula Specht


Especially for investigator-initiated research at universities and academic institutions, Internet-based rare disease registries (RDR) are required that integrate electronic data capture (EDC) with automatic image analysis or manual image annotation. We propose a modular framework merging alpha-numerical and binary data capture. In concordance with the Office of Rare Diseases Research recommendations, a requirement analysis was performed based on several RDR databases currently hosted at Uniklinik RWTH Aachen, Germany. With respect to the study management tool that is already successfully operating at the Clinical Trial Center Aachen, the Google Web Toolkit was chosen with Hibernate and Gilead connecting a MySQL database management system. Image and signal data integration and processing is supported by Apache Commons FileUpload-Library and ImageJ-based Java code, respectively. As a proof of concept, the framework is instantiated to the German Calciphylaxis Registry. The framework is composed of five mandatory core modules: (1) Data Core, (2) EDC, (3) Access Control, (4) Audit Trail, and (5) Terminology as well as six optional modules: (6) Binary Large Object (BLOB), (7) BLOB Analysis, (8) Standard Operation Procedure, (9) Communication, (10) Pseudonymization, and (11) Biorepository. Modules 1–7 are implemented in the German Calciphylaxis Registry. The proposed RDR framework is easily instantiated and directly integrates image management and analysis. As open source software, it may assist improved data collection and analysis of rare diseases in near future.


Clinical trial Rare disease registry Electronic data capture Data management Image management Image processing Image annotation 


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Copyright information

© Society for Imaging Informatics in Medicine 2014

Authors and Affiliations

  • Thomas M. Deserno
    • 1
    Email author
  • Daniel Haak
    • 1
  • Vincent Brandenburg
    • 2
  • Verena Deserno
    • 3
  • Christoph Classen
    • 1
  • Paula Specht
    • 2
  1. 1.Department of Medical InformaticsUniklinik RWTH AachenAachenGermany
  2. 2.Medical Clinic I, Cardiology DepartmentUniklinik RWTH AachenAachenGermany
  3. 3.Clinical Trial Center AachenUniklinik RWTH AachenAachenGermany

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