{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Karaa A"],"funding":["NICHD NIH HHS","NINDS NIH HHS"],"pagination":["2100047"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8936395"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["3(1)"],"pubmed_abstract":["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, obstacle"],"journal":["Advanced genetics (Hoboken, N.J.)"],"pubmed_title":["Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease."],"pmcid":["PMC8936395"],"funding_grant_id":["U24 HD093483","U54 NS078059"],"pubmed_authors":["Campbell JC","Parikh S","Christodoulou J","McFarland R","Karaa A","Koga Y","MacMullen LE","Scaglia F","Lamperti C","Rahman S","van Maanen R","Yeske P","Cohen BH","Klopstock T","Sherman AV","Falk MJ"],"additional_accession":[]},"is_claimable":false,"name":"Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.","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, obstacle","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Mar","modification":"2026-05-31T11:54:11.681Z","creation":"2025-04-06T21:51:09.972Z"},"accession":"S-EPMC8936395","cross_references":{"pubmed":["35317023"],"doi":["10.1002/ggn2.202100047"]}}