Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

Abstract

Executive SummaryA movement to create a federated global patient registry containing core data and using a standardized vocabulary for as many as 7,000 rare diseases was launched at a workshop,

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

“…They have to be designed with the agility to evolve and efficiently interoperate in an ever changing rare disease landscape as well as information and communication technology (ICT). The need of efficient RDR frameworks has often been claimed [1,2], but-to the best of our knowledge-a RDR framework that instantaneous manages and analyzes binary data such as medical images has not yet been published or deployed.…”

“…Although sound data is lacking, it is currently stated that there are over 7,000 rare diseases identified and reported, which affect approximately 6-8 % of the world population [1,2] and an estimated 25 million to 30 million Americans. 1 Hence, investigators in clinical research foster the establishment of rare disease registries (RDRs), which are seen as an essential tool to improve knowledge and monitor interventions for rare diseases [3].…”

“…1 Hence, investigators in clinical research foster the establishment of rare disease registries (RDRs), which are seen as an essential tool to improve knowledge and monitor interventions for rare diseases [3]. In France for instance, the Ministry of Health has initiated a national plan for rare diseases, which involves 132 reference centers for a specific disease or a group of diseases [4].…”

“…Consequently, the United States (US) National Institute of Health (NIH) Office of Rare Diseases Research (ORDR)-as manifested in its 2010 workshop report [1]urgently recommends the development of a minimal common registry model, that should be open source and broadly available. In particular, ORDR has developed specific recommendations for (i) standardized vocabulary, terminology, codes and diagnoses: which aim at finding commonalities across all rare diseases and at developing a minimal common registry model; (ii) technology and informatics, which aim at developing an open-source software/hosted registry solution; (iii) biorepositories and biospecimens, which aim at establishing disease biospecimen repositories using patient registries as sources for donors; (iv) clinical research, patient care and disease management, which aim at developing centralized registries; (v) patient participation, outreach activities and patient advocacy, which aim at writing a "Registry-building for Dummies" handbook; and (vi) bioethical and legal issues, which aim at bringing in ethical as well as regulatory expertise.…”

Mutation (variation) databases and registries: a rationale for coordination of efforts

“…6). Recently, there has been a call for global registries of rare diseases (more than 80% of which are genetic) 7,8 . Most recently, the US National Institutes of Health and the European Commission have developed the International Rare Diseases Research Consortium (IRDiRC) 9 .…”