{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T17:50:32Z","timestamp":1774893032078,"version":"3.50.1"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T00:00:00Z","timestamp":1661472000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T00:00:00Z","timestamp":1661472000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Sociedade Portuguesa de Oftalmologia"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Rare disease registries increase research accessibility for patients, while providing clinicians\/investigators with a coherent data ecosystem necessary to boost research and patient care. The IRD-PT registry is a national, web-based, interoperable registry for inherited retinal degenerations (IRDs) designed to generate scientific knowledge and collect high-quality data on the epidemiology, genomic landscape and natural history of IRDs in Portugal. In two years, the number of enrolled patients almost doubled (537 to 1060). Still, the registry has a lower-than-expected adoption rate, with only 4 centers across Portugal actively enrolling patients. This highlights a strong need to understand factors that may be hindering the registry\u2019s nationwide adoption. The purpose of this manuscript is to analyze challenges, facilitators and barriers to the adoption and use of the IRD-PT registry, and to discuss avenues for improvement, focusing on keeping the registry sustainable in the long run. We believe that this exercise may help other rare disease registries to improve user adherence and engagement, ultimately contributing to develop more sustainable and successful registries in the field.<\/jats:p>","DOI":"10.1186\/s13023-022-02489-1","type":"journal-article","created":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T12:02:55Z","timestamp":1661515375000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Challenges, facilitators and barriers to the adoption and use of a web-based national IRD registry: lessons learned from the IRD-PT registry"],"prefix":"10.1186","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1014-0483","authenticated-orcid":false,"given":"Jo\u00e3o Pedro","family":"Marques","sequence":"first","affiliation":[]},{"given":"Sara","family":"Vaz-Pereira","sequence":"additional","affiliation":[]},{"given":"Jos\u00e9","family":"Costa","sequence":"additional","affiliation":[]},{"given":"Ana","family":"Marta","sequence":"additional","affiliation":[]},{"given":"Jos\u00e9","family":"Henriques","sequence":"additional","affiliation":[]},{"given":"Rufino","family":"Silva","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2022,8,26]]},"reference":[{"key":"2489_CR1","first-page":"185","volume":"34","author":"V Boulanger","year":"2020","unstructured":"Boulanger V, Schlemmer M, Rossov S, Seebald A, Gavin P. Establishing patient registries for rare diseases: rationale and challenges. Pharmaceut Med. 2020;34:185\u201390.","journal-title":"Pharmaceut Med"},{"key":"2489_CR2","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.preteyeres.2017.03.003","volume":"59","author":"S Broadgate","year":"2017","unstructured":"Broadgate S, Yu J, Downes SM, Halford S. Unravelling the genetics of inherited retinal dystrophies: past, present and future. Prog Retin Eye Res. 2017;59:53\u201396.","journal-title":"Prog Retin Eye Res"},{"issue":"1","key":"2489_CR3","doi-asserted-by":"publisher","first-page":"304","DOI":"10.1186\/s13023-020-01591-6","volume":"15","author":"JP Marques","year":"2020","unstructured":"Marques JP, Carvalho AL, Henriques J, Murta JN, Saraiva J, Silva R. Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT. Orphanet J Rare Dis. 2020;15(1):304.","journal-title":"Orphanet J Rare Dis"},{"issue":"11","key":"2489_CR4","doi-asserted-by":"publisher","first-page":"1250","DOI":"10.1001\/jamaophthalmol.2017.4187","volume":"135","author":"S Read-Brown","year":"2017","unstructured":"Read-Brown S, Hribar MR, Reznick LG, Lombardi LH, Parikh M, Chamberlain WD, et al. Time requirements for electronic health record use in an academic ophthalmology center. JAMA Ophthalmol. 2017;135(11):1250\u20137.","journal-title":"JAMA Ophthalmol"},{"issue":"11","key":"2489_CR5","doi-asserted-by":"publisher","first-page":"753","DOI":"10.7326\/M16-0961","volume":"165","author":"C Sinsky","year":"2016","unstructured":"Sinsky C, Colligan L, Li L, Prgomet M, Reynolds S, Goeders L, et al. Allocation of physician time in ambulatory practice: a time and motion study in 4 specialties. 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Systematic review of factors influencing the adoption of information and communication technologies by healthcare professionals. J Med Syst. 2012;36(1):241\u201377.","journal-title":"J Med Syst"},{"issue":"6","key":"2489_CR9","doi-asserted-by":"publisher","first-page":"650","DOI":"10.1177\/1077558707305942","volume":"64","author":"AK Yarbrough","year":"2007","unstructured":"Yarbrough AK, Smith TB. Technology acceptance among physicians: a new take on TAM. Med Care Res Rev. 2007;64(6):650\u201372.","journal-title":"Med Care Res Rev"},{"key":"2489_CR10","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1186\/1472-6963-10-231","volume":"10","author":"A Boonstra","year":"2010","unstructured":"Boonstra A, Broekhuis M. Barriers to the acceptance of electronic medical records by physicians from systematic review to taxonomy and interventions. BMC Health Serv Res. 2010;10:231.","journal-title":"BMC Health Serv Res"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02489-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-022-02489-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-022-02489-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T12:14:14Z","timestamp":1661516054000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/s13023-022-02489-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,26]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["2489"],"URL":"https:\/\/doi.org\/10.1186\/s13023-022-02489-1","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,26]]},"assertion":[{"value":"30 April 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 August 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 August 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Formal review and approval of the IRD-PT was obtained from the Portuguese Data Protection Authority (<i>Comiss\u00e3o Nacional de Prote\u00e7\u00e3o de Dados\u2014<\/i>CNPD), Human Research Ethics Committee (HREC) of <i>Centro Hospitalar e Universit\u00e1rio de Coimbra<\/i> (CHUC) and Institutional Review Board (IRB) of the Faculty of Medicine of the University of Coimbra (FMUC)\u2014reference Number: CE- 125\/2019. Additionally, each participating core health care provider obtained approval from the respective Ethics Committee. Documentation of approval from each center is copied to the central governing office to ensure currency of approval is maintained. Consent to participate from the involving human participants was in accordance with the ethical standards of the Human Research Ethics Committee (HREC) of CHUC\/FMUC and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Written informed consent was obtained from all individual participants included in the registry.","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":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"323"}}