Factors Influencing the Generation of Evidence from Simple Data Held in International Rare Disease Patient Registries

Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine. However, the growing number of disease-specific patient registries brings also new technical challenges. Usually, these systems are developed as closed data silos, with independent formats and models, lacking comprehensive mechanisms to enable data sharing. To tackle these challenges, we developed a Semantic Web based solution that allows connecting distributed and heterogeneous registries, enabling the federation of knowledge between multiple independent environments. This semantic layer creates a holistic view over a set of anonymised registries, supporting semantic data representation, integrated access, and querying. The implemented system gave us the opportunity to answer challenging questions across disperse rare disease patient registries. The interconnection between those registries using Semantic Web technologies benefits our final solution in a way that we can query single or multiple instances according to our needs. The outcome is a unique semantic layer, connecting miscellaneous registries and delivering a lightweight holistic perspective over the wealth of knowledge stemming from linked rare disease patient registries.

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Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study

Journal of Public Health ◽

10.1093/pubmed/fdv099 ◽

2015 ◽

Vol 38 (2) ◽

pp. e178-e186 ◽

Cited By ~ 6

Author(s):

Clara Cavero-Carbonell ◽

Elena Gras-Colomer ◽

Rosana Guaita-Calatrava ◽

Carmen López-Briones ◽

Rubén Amorós ◽

...

Keyword(s):

Rare Disease ◽

Delphi Study ◽

Disease Patient ◽

Patient Registry ◽

Rare Disease Patient

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Challenges in Building and Maintaining Rare Disease Patient Registries: Results of a Questionnaire Survey in Japan at 2012

10.1101/19004770 ◽

2019 ◽

Author(s):

Mizuki Morita ◽

Soichi Ogishima

Keyword(s):

Rare Diseases ◽

Financial Support ◽

Disease Patient ◽

The Internet ◽

Medical Doctors ◽

It Infrastructure ◽

Patient Registries ◽

Survey Results ◽

Rare Disease Patient ◽

Research Grant

AbstractBackgroundResearch infrastructure such as patient registries and biobanks is expected to play important roles by aggregating information and biospecimens to promote research and development for rare diseases. However, both building and maintaining them can be costly. This paper presents results of a survey of patient registries for rare diseases in Japan conducted at the end of 2012, with emphasis on clarifying costs and efforts related to building and maintaining them.ResultsOf 31 patient registries in Japan found by searching a database of research grant reports and by searching the internet, 11 returned valid responses to this survey. Results show that labor and IT system costs are major expenses for developing and maintaining patient registries. Half of the respondent patient registries had no prospect of securing a budget to maintain them. Responders required the following support for patient registries: financial support, motivation of registrants (medical doctors or patients), and improved communication with and visibility to potential data users. These results resemble those reported from another survey conducted almost simultaneously in Europe (EPIRARE survey).ConclusionsSurvey results imply that costs and efforts to build and maintain patient registries for many rare diseases make them unrealistic. Some alternative strategy is necessary to reduce burdens, such as offering a platform that supplies IT infrastructure and basic secretariat functions that can be used commonly among many patient registries.

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