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Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations

Disease registries have been used as an interesting source of real-world data for supporting regulatory decision-making. In fact, drug studies based on registries cover pre-approval investigation, registry randomized clinical trials, and post-authorization studies. This opportunity has been investig...

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Autores principales: Mordenti, Marina, Boarini, Manila, D’Alessandro, Fabio, Pedrini, Elena, Locatelli, Manuela, Sangiorgi, Luca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537464/
https://www.ncbi.nlm.nih.gov/pubmed/36210847
http://dx.doi.org/10.3389/fphar.2022.966081
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author Mordenti, Marina
Boarini, Manila
D’Alessandro, Fabio
Pedrini, Elena
Locatelli, Manuela
Sangiorgi, Luca
author_facet Mordenti, Marina
Boarini, Manila
D’Alessandro, Fabio
Pedrini, Elena
Locatelli, Manuela
Sangiorgi, Luca
author_sort Mordenti, Marina
collection PubMed
description Disease registries have been used as an interesting source of real-world data for supporting regulatory decision-making. In fact, drug studies based on registries cover pre-approval investigation, registry randomized clinical trials, and post-authorization studies. This opportunity has been investigated particularly for rare diseases—conditions affecting a small number of individuals worldwide—that represent a peculiar scenario. Several guidelines, concepts, suggestions, and laws are already available to support the design or improvement of a rare disease registry, opening the way for implementation of a registry capable of managing regulatory purposes. The present study aims to highlight the key stages performed for remodeling the existing Registry of Multiple Osteochondromas—REM into a tool consistent with EMA observations and recommendations, as well as to lead the readers through the entire adapting, remodeling, and optimizing process. The process included a variety of procedures that can be summarized into three closely related categories: semantic interoperability, data quality, and governance. At first, we strengthened interoperability within the REM registry by integrating ontologies and standards for proper data collection, in accordance with FAIR principles. Second, to increase data quality, we added additional parameters and domains and double-checked to limit human error to a bare minimum. Finally, we established two-level governance that has increased the visibility for the scientific community and for patients and carers. In conclusion, our remodeled REM registry fits with most of the scientific community’s needs and indications, as well as the best techniques for providing real-world evidence for regulatory aspects.
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spelling pubmed-95374642022-10-08 Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations Mordenti, Marina Boarini, Manila D’Alessandro, Fabio Pedrini, Elena Locatelli, Manuela Sangiorgi, Luca Front Pharmacol Pharmacology Disease registries have been used as an interesting source of real-world data for supporting regulatory decision-making. In fact, drug studies based on registries cover pre-approval investigation, registry randomized clinical trials, and post-authorization studies. This opportunity has been investigated particularly for rare diseases—conditions affecting a small number of individuals worldwide—that represent a peculiar scenario. Several guidelines, concepts, suggestions, and laws are already available to support the design or improvement of a rare disease registry, opening the way for implementation of a registry capable of managing regulatory purposes. The present study aims to highlight the key stages performed for remodeling the existing Registry of Multiple Osteochondromas—REM into a tool consistent with EMA observations and recommendations, as well as to lead the readers through the entire adapting, remodeling, and optimizing process. The process included a variety of procedures that can be summarized into three closely related categories: semantic interoperability, data quality, and governance. At first, we strengthened interoperability within the REM registry by integrating ontologies and standards for proper data collection, in accordance with FAIR principles. Second, to increase data quality, we added additional parameters and domains and double-checked to limit human error to a bare minimum. Finally, we established two-level governance that has increased the visibility for the scientific community and for patients and carers. In conclusion, our remodeled REM registry fits with most of the scientific community’s needs and indications, as well as the best techniques for providing real-world evidence for regulatory aspects. Frontiers Media S.A. 2022-09-23 /pmc/articles/PMC9537464/ /pubmed/36210847 http://dx.doi.org/10.3389/fphar.2022.966081 Text en Copyright © 2022 Mordenti, Boarini, D’Alessandro, Pedrini, Locatelli and Sangiorgi. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pharmacology
Mordenti, Marina
Boarini, Manila
D’Alessandro, Fabio
Pedrini, Elena
Locatelli, Manuela
Sangiorgi, Luca
Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations
title Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations
title_full Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations
title_fullStr Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations
title_full_unstemmed Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations
title_short Remodeling an existing rare disease registry to be used in regulatory context: Lessons learned and recommendations
title_sort remodeling an existing rare disease registry to be used in regulatory context: lessons learned and recommendations
topic Pharmacology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9537464/
https://www.ncbi.nlm.nih.gov/pubmed/36210847
http://dx.doi.org/10.3389/fphar.2022.966081
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