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Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

Primary mitochondrial diseases (PMD) are genetic disorders with extensive clinical and molecular heterogeneity where therapeutic development efforts have faced multiple challenges. Clinical trial design, outcome measure selection, lack of reliable biomarkers, and deficiencies in long‐term natural hi...

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Autores principales: Karaa, Amel, MacMullen, Laura E., Campbell, John C., Christodoulou, John, Cohen, Bruce H., Klopstock, Thomas, Koga, Yasutoshi, Lamperti, Costanza, van Maanen, Rob, McFarland, Robert, Parikh, Sumit, Rahman, Shamima, Scaglia, Fernando, Sherman, Alexander V., Yeske, Philip, Falk, Marni J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8936395/
https://www.ncbi.nlm.nih.gov/pubmed/35317023
http://dx.doi.org/10.1002/ggn2.202100047
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author Karaa, Amel
MacMullen, Laura E.
Campbell, John C.
Christodoulou, John
Cohen, Bruce H.
Klopstock, Thomas
Koga, Yasutoshi
Lamperti, Costanza
van Maanen, Rob
McFarland, Robert
Parikh, Sumit
Rahman, Shamima
Scaglia, Fernando
Sherman, Alexander V.
Yeske, Philip
Falk, Marni J.
author_facet Karaa, Amel
MacMullen, Laura E.
Campbell, John C.
Christodoulou, John
Cohen, Bruce H.
Klopstock, Thomas
Koga, Yasutoshi
Lamperti, Costanza
van Maanen, Rob
McFarland, Robert
Parikh, Sumit
Rahman, Shamima
Scaglia, Fernando
Sherman, Alexander V.
Yeske, Philip
Falk, Marni J.
author_sort Karaa, Amel
collection PubMed
description Primary mitochondrial diseases (PMD) are genetic disorders with extensive clinical and molecular heterogeneity where therapeutic development efforts have faced multiple challenges. Clinical trial design, outcome measure selection, lack of reliable biomarkers, and deficiencies in long‐term natural history data sets remain substantial challenges in the increasingly active PMD therapeutic development space. Developing “FAIR” (findable, accessible, interoperable, reusable) data standards to make data sharable and building a more transparent community data sharing paradigm to access clinical research metadata are the first steps to address these challenges. This collaborative community effort describes the current landscape of PMD clinical research data resources available for sharing, obstacles, and opportunities, including ways to incentivize and encourage data sharing among diverse stakeholders. This work highlights the importance of, and challenges to, developing a unified system that enables clinical research structured data sharing and supports harmonized data deposition standards across clinical consortia and research groups. The goal of these efforts is to improve the efficiency and effectiveness of drug development and improve understanding of the natural history of PMD. This initiative aims to maximize the benefit for PMD patients, research, industry, and other stakeholders while acknowledging challenges related to differing needs and international policies on data privacy, security, management, and oversight.
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spelling pubmed-89363952022-03-21 Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease Karaa, Amel MacMullen, Laura E. Campbell, John C. Christodoulou, John Cohen, Bruce H. Klopstock, Thomas Koga, Yasutoshi Lamperti, Costanza van Maanen, Rob McFarland, Robert Parikh, Sumit Rahman, Shamima Scaglia, Fernando Sherman, Alexander V. Yeske, Philip Falk, Marni J. Adv Genet (Hoboken) Perspective Primary mitochondrial diseases (PMD) are genetic disorders with extensive clinical and molecular heterogeneity where therapeutic development efforts have faced multiple challenges. Clinical trial design, outcome measure selection, lack of reliable biomarkers, and deficiencies in long‐term natural history data sets remain substantial challenges in the increasingly active PMD therapeutic development space. Developing “FAIR” (findable, accessible, interoperable, reusable) data standards to make data sharable and building a more transparent community data sharing paradigm to access clinical research metadata are the first steps to address these challenges. This collaborative community effort describes the current landscape of PMD clinical research data resources available for sharing, obstacles, and opportunities, including ways to incentivize and encourage data sharing among diverse stakeholders. This work highlights the importance of, and challenges to, developing a unified system that enables clinical research structured data sharing and supports harmonized data deposition standards across clinical consortia and research groups. The goal of these efforts is to improve the efficiency and effectiveness of drug development and improve understanding of the natural history of PMD. This initiative aims to maximize the benefit for PMD patients, research, industry, and other stakeholders while acknowledging challenges related to differing needs and international policies on data privacy, security, management, and oversight. John Wiley and Sons Inc. 2021-12-19 /pmc/articles/PMC8936395/ /pubmed/35317023 http://dx.doi.org/10.1002/ggn2.202100047 Text en © 2021 The Authors. Advanced Genetics published by Wiley Periodicals LLC https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Perspective
Karaa, Amel
MacMullen, Laura E.
Campbell, John C.
Christodoulou, John
Cohen, Bruce H.
Klopstock, Thomas
Koga, Yasutoshi
Lamperti, Costanza
van Maanen, Rob
McFarland, Robert
Parikh, Sumit
Rahman, Shamima
Scaglia, Fernando
Sherman, Alexander V.
Yeske, Philip
Falk, Marni J.
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
title Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
title_full Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
title_fullStr Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
title_full_unstemmed Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
title_short Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease
title_sort community consensus guidelines to support fair data standards in clinical research studies in primary mitochondrial disease
topic Perspective
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8936395/
https://www.ncbi.nlm.nih.gov/pubmed/35317023
http://dx.doi.org/10.1002/ggn2.202100047
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