title: Integrated image data and medical record management for rare disease registries. A general framework and its instantiation to theGerman Calciphylaxis Registry.
abstract: 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.
authors.affiliation: Department of Medical Informatics, Uniklinik RWTH Aachen, Pauwelsstr. 30, 52057, Aachen, Germany, deserno@ieee.org.
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Deserno
authors.forename: Daniel
authors.initials: D
authors.lastname: Haak
authors.forename: Vincent
authors.initials: V
authors.lastname: Brandenburg
authors.forename: Verena
authors.initials: V
authors.lastname: Deserno
authors.forename: Christoph
authors.initials: C
authors.lastname: Classen
authors.forename: Paula
authors.initials: P
authors.lastname: Specht
mesh_terms: D002115:Calciphylaxis / Q000175:diagnosis*; D003628:Database Management Systems / Q000458:organization & administration / Q000706:statistics & numerical data*; D016208:Databases, Factual / Q000706:statistics & numerical data*; D005858:Germany; D006801:Humans; D020407:Internet; D016347:Medical Records Systems, Computerized / Q000458:organization & administration / Q000706:statistics & numerical data*; D035583:Rare Diseases / Q000175:diagnosis*; D012042:Registries / Q000706:statistics & numerical data*