Patient Registries: Utility, Validity and Inference

Background: The focus on the quality of the procedures for data collection, storing, and analysis in the definition and implementation of a rare disease registry (RDR) is the basis for developing a valid and long-term sustainable tool. The aim of this study was to provide useful information for characterizing a quality profile for RDRs using an analytical approach applied to RDRs participating in the European Platform for Rare Disease Registries 2011-2014 (EPIRARE) survey. Methods: An indicator of quality was defined by choosing a small set of quality-related variables derived from the survey. The random forest method was used to identify the variables best defining a quality profile for RDRs. Fisher's exact test was employed to assess the association with the indicator of quality, and the Cochran-Armitage test was used to check the presence of a linear trend along different levels of quality. Results: The set of variables found to characterize high-quality RDRs focused on ethical and legal issues, governance, communication of activities and results, established procedures to regulate access to data and security, and established plans to ensure long-term sustainability. Conclusions: The quality of RDRs is usually associated with a good oversight and governance mechanism and with durable funding. The results suggest that RDRs would benefit from support in management, information technology, epidemiology, and statistics.

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“…These results are in accordance with and enforce the findings of other authors and reports [17,18,19,20,21,22]. …”

Section: Discussionsupporting

confidence: 83%

The Quality of Rare Disease Registries: Evaluation and Characterization

Coi

Santoro

Villaverde-Hueso

et al. 2016

Public Health Genomics

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“…In line with the literature [12,16,17], registries replying to the survey declared having several aims: ‘epidemiological research' ranked first; ‘patient recruitment' and ‘natural history of disease' ranked second, while ‘disease surveillance' and ‘genotype-phenotype correlation' ranked third (table 3). …”

Section: Resultssupporting

confidence: 48%

The Current Situation and Needs of Rare Disease Registries in Europe

Taruscio

Gainotti

Mollo

et al. 2013

Public Health Genomics

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Background: Registries are considered key instruments for developing rare disease (RD) clinical research, enhancing patient care and health planning, and improving social, economic and quality-of-life outcomes. Indeed, it is usually the case that no single institution, and in many cases no single country, has sufficient data to provide results that can be applied broadly to clinical and translational research. However, the fragmentation and heterogeneity of the registries, which are often the result of spontaneous initiatives, limit the general applicability of their observations. Methods: An inquiry has been carried out by the EPIRARE, a European Union (EU)-funded project (‘Building Consensus and Synergies for the EU Registration of Rare Disease Patients') aiming at paving the way to the creation of a European Platform for RD Registries, by means of an on-line questionnaire among European RD registries on their main activities and needs, the way they deal with methodological, technical and regulatory issues and the way they find resources to carry on their activities. Results: In spite of the heterogeneity of the European registries, some elements of relevance for an action to improve the situation of patient registries in the EU are apparent. The needs more frequently indicated by registry holders were financial support, motivation of data providers, data quality assessment, improvement of communication and visibility, and extension of collaborations. Moreover, the registry holders were in favor of a common EU platform providing services for RD registries. Conclusion: It appears that the current situation of the European registries provides the transition towards a more uniform, higher quality and better coordinated approach.

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“…So ist es unproblematisch, temporär mono-oder multizentrische Erhebungen oder prospektive Interventionen mit dem Benchmarkprojekt zu verknüpfen. Einige Limitationen müssen beachtet werden [11]. In erster Linie ist die Gewährleistung einer hohen Datenqualität zu nennen, da die Datenerhebung im Gegensatz zu den meisten RCTs nicht unter einem vergleichbaren Tabelle 1.…”

Section: Diskussionunclassified

Qualitätsverbesserung in der postoperativen Schmerztherapie

Meißner

2011

Zeitschrift für Evidenz, Fortbildung und Qualität im Gesundheit

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Patient Registries: Utility, Validity and Inference

Cited by 71 publications

References 27 publications

The Quality of Rare Disease Registries: Evaluation and Characterization

The Quality of Rare Disease Registries: Evaluation and Characterization

The Current Situation and Needs of Rare Disease Registries in Europe

Qualitätsverbesserung in der postoperativen Schmerztherapie

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