{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T22:25:34Z","timestamp":1779143134083,"version":"3.51.4"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T00:00:00Z","timestamp":1726099200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T00:00:00Z","timestamp":1726099200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100022502","name":"Mereo BioPharma","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100022502","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>SATURN (<jats:bold>S<\/jats:bold>ystematic <jats:bold>A<\/jats:bold>ccumulation of <jats:bold>T<\/jats:bold>reatment practices and <jats:bold>U<\/jats:bold>tilisation, <jats:bold>R<\/jats:bold>eal world evidence, and <jats:bold>N<\/jats:bold>atural history data) for the rare condition osteogenesis imperfecta (OI) has the objective to create a common core dataset by utilising existing, well-established data sources to meet the needs of the various stakeholders (physicians, registry\/dataset owners, patients and patient associations, OI community leaders, European [EU] policymakers, regulators, health technology assessments [HTA]s, and healthcare systems including payers). This paper describes the steps taken to assess the feasibility of one existing OI registry (i.e., the Registry of OI [ROI]) as a candidate for SATURN. The same methodology will be applied to other existing OI registries in the future and this same concept could be utilised for other rare disease registries.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>The approach to assessing the feasibility of the ROI registry consisted of three steps: (1) an assessment of the registry characteristics using the Registry Evaluation and Quality Standards Tool (REQueST); (2) a gap analysis comparing SATURN required Core Variables to those being captured in the registry\u2019s Case Report Form (CRF); and (3) a compliance check on the data exchange process following the Title 21 of Code of Federal Regulations (CFR) Part 11\/EudraLex Annex 11 Compliance Checklist. The first registry that SATURN has assessed is the ROI database at the Istituto Ortopedico Rizzoli (IOR) in Italy.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The results from the ROI REQueST have demonstrated satisfactory complete responses in terms of methodology, essential standards, interpretability, and interoperability\u2014readiness for data linkage, data sources, and ethics to meet the needs of data customers. However, the ROI data is from a tertiary referral centre which may limit the ability to understand the full patient journey. The gap analysis has revealed that an exact or logical match between SATURN requested variables and the ROI current variables exists for the following items: patient characteristics, treatment of OI (medical and surgical) and treatment of pain (with the exception of frequency of treatment and reasons for discontinuation), fracture history and bone density. However, data on safety was missing. The compliance check has implied that the ROI implemented appropriate controls for the web-based platform (i.e., Genotype\u2013phenotype Data Integration Platform [GeDI]) that is involved in processing the electronic patient data, and GeDI is a validated\/compliant application that follows relevant 21 CFR Part 11\/EudraLex Annex 11 regulations.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>This robust feasibility process highlights potential limitations and opportunities to develop and to refine the collaboration with the ROI as the SATURN programme moves forward. It also ensures that the existing datasets in the rare condition OI are being maximised to respond to the needs of patients, data customers and decision-makers. This feasibility process has allowed SATURN to build a compliant methodology that aligns with the requirements from the European Medicines Agency (EMA) and HTAs. More data variables will continue to be developed and refined along the way with more registries participating in SATURN. As a result, SATURN will become a meaningful and truly collaborative core dataset, which will also contribute to advancing understanding of OI diagnosis, treatment, and care.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s13023-024-03341-4","type":"journal-article","created":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T10:04:17Z","timestamp":1726135457000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["SATURN: assessing the feasibility of utilising existing registries for real-world evidence data collection to meet patients, regulatory, health technology assessment and payer requirements"],"prefix":"10.1186","volume":"19","author":[{"given":"L.","family":"Sangiorgi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Boarini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Mordenti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I.","family":"Westerheim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. T.","family":"Skarberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Cavaller-Bellaubi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James","family":"Clancy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Pinedo-Villanueva","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E. J. V.","family":"Lente","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Marchetti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,9,12]]},"reference":[{"issue":"1","key":"3341_CR1","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1002\/cpt.2479","volume":"111","author":"P Arlett","year":"2022","unstructured":"Arlett P, Kjaer J, Broich K, Cooke E. Real-world evidence in EU medicines regulation: enabling use and establishing value. Clin Pharmacol Ther. 2022;111(1):21\u20133. https:\/\/doi.org\/10.1002\/cpt.2479.","journal-title":"Clin Pharmacol Ther"},{"key":"3341_CR2","unstructured":"DARWIN EU\u00ae. Data Analysis and Real World Interrogation Network. https:\/\/www.darwin-eu.org\/. Accessed: 2 August 2024."},{"key":"3341_CR3","unstructured":"EUnetHTA (2019). 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Accessed: 2 August 2024."},{"key":"3341_CR9","doi-asserted-by":"publisher","first-page":"1299232","DOI":"10.3389\/fendo.2023.1299232","volume":"14","author":"M Mordenti","year":"2024","unstructured":"Mordenti M, Boarini M, Banchelli F, Antonioli D, Corsini S, Gnoli M, Locatelli M, Pedrini E, Staals E, Triosolino LM, Sangiorgi L. Osteogenesis imperfecta: a cross-sectional study of skeletal and extraskeletal features in a large cohort of Italian patients. Front Endocrinol. 2024;14:1299232. https:\/\/doi.org\/10.3389\/fendo.2023.1299232.","journal-title":"Front Endocrinol"},{"issue":"1","key":"3341_CR10","doi-asserted-by":"publisher","first-page":"184","DOI":"10.1186\/s13023-024-03185-y","volume":"19","author":"L Sangiorgi","year":"2024","unstructured":"Sangiorgi L, Boarini M, Westerheim I, Skarberg RT, Clancy J, Wang V, Mordenti M. Project SATURN \u2013 a real-world evidence data collaboration with existing European datasets in osteogenesis imperfecta to support future therapies. Orphanet J Rare Dis. 2024;19(1):184. https:\/\/doi.org\/10.1186\/s13023-024-03185-y.","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"3341_CR11","doi-asserted-by":"publisher","DOI":"10.1038\/sdata.2016.18","volume":"15","author":"MD Wilkinson","year":"2016","unstructured":"Wilkinson MD, Dumontier M, Aalbersberg IJ, et al. The FAIR guiding principles for scientific data management and stewardship. Sci Data. 2016;15(3): 160018. https:\/\/doi.org\/10.1038\/sdata.2016.18.","journal-title":"Sci Data"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03341-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-024-03341-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-024-03341-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,9,12]],"date-time":"2024-09-12T10:06:41Z","timestamp":1726135601000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-024-03341-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,9,12]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3341"],"URL":"https:\/\/doi.org\/10.1186\/s13023-024-03341-4","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,9,12]]},"assertion":[{"value":"14 May 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"21 August 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 September 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"LS, MB, and MMordenti are employees of IOR and are compensated for their time on the collaboration with Mereo BioPharma. IW is a board leader of OIFE, which receives grants from Mereo Biopharma and other pharma companies. RTS is a volunteer of OIFE and elected patient representative (ePAG) of ERN-BOND. JC is an employee of Mereo BioPharma and may hold Mereo BioPharma stocks. VW is an employee of UBC Late Stage is contracted by Mereo BioPharma. MCB, RPV, EJVL, MMarchetti have no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interest"}}],"article-number":"336"}}