Suchergebnisse

The aim for this thesis is to investigate the value of registries for regulatory decision-making in rare diseases. In the first study we present the results of a review of 116 new medicinal products approved in the European Union between 2007 and 2010. For 43 (37%) medicinal products a total of 73 registries were identified. Of these 46 were disease registries and 27 (single) drug registries. The primary goal of the registry was to collect further safety data (39 registries) or data on the use of a medicinal product during pregnancy (27 registries). The study showed that registries are an important and frequently used tool for post‐approval data collection for orphan and innovative drugs. In a follow-up study we reviewed the protocols and the follow-up reports for these 73 registry studies. Two studies (3%) in registries had been finalized, 19 registries (26%) had not enrolled any patients, and 52 studies (71%) were ongoing. Data from 11 registry studies were published in peer-reviewed journals. Results of six registries were mentioned in European Public Assessment Report updates only, and for two medicinal products the results were added to the label. This illustrates that so far registries only have a limited impact on resolving gaps in the knowledge of a drug's benefits and risks at time of marketing authorisation. In the third study we investigated the extent to which clinical single-arm trials and the PedNet registry did collect the set of core data as described in the "Guideline clinical investigation on the of recombinant and human plasma-derived factor VIII products". The presented analysis demonstrated that the clinical trials were highly diverse, especially in number of patients, severity definition, follow-up period and inhibitor test modalities. It exemplarily demonstrated that the PedNet registry collected data as required by the guideline. The results of inhibitor development were comparable, especially when focusing on patients with severe haemophilia. In the next study we investigated whether a disease registry could serve as a suitable alternative to clinical studies in haemophilia. In the clinical study, the prevalence of family history of inhibitors was higher and more patients had a high-risk gene mutation and a higher percentage of patients developed an inhibitor. The number of withdrawals was higher in the clinical study; the completeness of the follow-up was better in the registry. This study indicates that registries like PedNet are potentially useful in assessing the inhibitor developments in treatments for haemophilia and may serve as an alternative to uncontrolled clinical studies for evaluation of high-titre inhibitors. Finally, we investigated the opinion of stakeholders about key aspects of rare disease registries that are used to support regulatory decision making and to compare the responses of employees from industry to other stakeholders. There was agreement about the type of data to be collected, but there was a difference of opinion about who should have access to the data. Overall it indicates that independent registries can play an important role during the authorisation process of medicines for rare diseases.

Twins can provide unique opportunities to study causal influences on variation in human behaviors, development, and diseases. During the past 10 years, the number of twin registries has increased rapidly across the globe and we thought it timely to bring these to the attention of our readership. In this special issue, we invited papers on twin registries and cohorts from 28 countries representing five continents. Subjects covered include how to establish and maintain twin registries, accurately assess zygosity, collect biospecimens, and other important issues related to twin studies. This special issue shows that over 1.5 million twins and their families are participating in twin studies worldwide. Research interests will be highlighted, with the aim of fostering collaborative research.

With a focus on public registries, this article analyzes the organization of public registries comparing five organizational forms: (1) the bureaucratic expense centers used to provide privately valuable services in the welfare state; (2) the internal markets introduced to reform them and the hybrid solutions that have been used by the liberal state since the 19th century to provide such privately valuable services, including (3) revenue centers based on user fees, (4) franchised systems in which professional civil servants are in addition paid with the profit of an office, and (5) the contemporary variant in which the Government contracts out the provision of the whole service to a private firm. This comparison suggests that market forces may play a better role in organizing public registries when they are limited to a few variables, which makes stronger incentives possible and, at the same time, reduces the need for extensive planning and supervisory staff.

Cover -- Copyright -- Contents -- Section IV. Technical, Legal, and Analytic Considerations for Combining Registry Data With Other Data Sources -- Chapter 15. Interfacing Registries With Electronic Health Records -- 1. Introduction -- 2. EHRs and Patient Registries -- 3. EHRs and Evidence Development -- 4. Current Challenges in a Preinteroperable Environment -- 5. The Vision of EHR-Registry Interoperability -- 6. Interoperability Challenges -- 7. Partial and Potential Solutions -- 8. Momentum Toward a Functional Interoperability Solution -- 9. The Next Increment -- 10. What Has Been Done -- 11. Distributed Networks -- 12. Summary -- Case Examples for Chapter 15 -- Case Example 32. Using System Integration Software To Capture Registry Data From Electronic Health Records -- Case Example 33. Creating a Registry Interface To Incorporate Data From Multiple Electronic Health Records -- Case Example 34. Technical and Security Issues in Creating a Health Information Exchange -- Case Example 35. Developing a New Model for Gathering and Reporting Adverse Drug Events -- References for Chapter 15 -- Chapter 16. Linking Registry Data With Other Data Sources To Support New Studies -- 1. Introduction -- 2. Technical Aspects of Data Linkage Projects -- 3. Legal Aspects of Data Linkage Projects -- 4. Risk Mitigation for Data Linkage Projects -- 5. Legal and Technical Planning Questions -- 6. Summary -- Case Examples for Chapter 16 -- Case Example 36. Linking Registries at the International Level -- Case Example 37. Linking a Procedure-Based Registry With Claims Data To Study Long-Term Outcomes -- Case Example 38. Linking Registry Data To Examine Long-Term Survival -- Case Example 39. Linking Longitudinal Registry Data to Medicaid Analytical Extract Files -- References for Chapter 16 -- Chapter 17. Managing Patient Identity Across Data Sources -- 1. Introduction

Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality. ; Supported by the RD-CONNECT: an integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research, which received funding from the European Union within the framework of FP7 Collaborative projectHEALTH.2012.2.1.1-1-C [Grant agreement number: 305444]. Supported partly also by EuRRECa: European Registries for Rare Endocrine Conditions, which received funding from the European Union within the framework of CHAFEA Health Programme (2014–2020) [Grant agreement number: 777215] and the COST Action CA16210 "Maximising Impact of research in NeuroDevelopmental Disorders".