{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T10:19:35Z","timestamp":1787566775071,"version":"build-2736575974"},"reference-count":139,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,8,1]],"date-time":"2026-08-01T00:00:00Z","timestamp":1785542400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,6,29]],"date-time":"2026-06-29T00:00:00Z","timestamp":1782691200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000038","name":"U.S. Food and Drug Administration","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000038","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004330","name":"GlaxoSmithKline","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004330","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012357","name":"LifeArc","doi-asserted-by":"publisher","award":["10747"],"award-info":[{"award-number":["10747"]}],"id":[{"id":"10.13039\/100012357","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006662","name":"National Institute on Handicapped Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006662","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010377","name":"National Institute for Health and Care Excellence","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010377","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","thelancet.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["eClinicalMedicine"],"published-print":{"date-parts":[[2026,8]]},"DOI":"10.1016\/j.eclinm.2026.104073","type":"journal-article","created":{"date-parts":[[2026,7,20]],"date-time":"2026-07-20T15:12:08Z","timestamp":1784560328000},"page":"104073","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Recommendations for the use of clinical outcome assessments in rare disease drug development"],"prefix":"10.1016","volume":"98","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9122-8251","authenticated-orcid":false,"given":"Olalekan Lee","family":"Aiyegbusi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noleen K.","family":"McCorry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie J.","family":"Calvert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5762-7881","authenticated-orcid":false,"given":"John Devin","family":"Peipert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samantha Cruz","family":"Rivera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Muni-Lofra","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Solomon","family":"Alexis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fez","family":"Awan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8342-3663","authenticated-orcid":false,"given":"Tom","family":"Bailey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucinda","family":"Billingham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosaline","family":"Callaghan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Collins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brooke M.","family":"Currie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mel","family":"Dixon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Duddridge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Ennis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linda","family":"Fred","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Greenwell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian","family":"Griffiths","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asha","family":"Hareendran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onyekachukwu A.","family":"Illoh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerry","family":"Leeson-Beevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krishna","family":"Letchemanan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven P.","family":"Lister","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5728-4129","authenticated-orcid":false,"given":"Christopher","family":"McCabe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Molly","family":"McFatrich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy Jayne","family":"McKnight","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona","family":"McLaughlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ramona","family":"Moldovan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lindsey T.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel J.","family":"O'Connor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hafiz","family":"Oko-osi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise","family":"Oni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate M.","family":"Pritchard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Khadija Rerhou","family":"Rantell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9046-3540","authenticated-orcid":false,"given":"Volker","family":"Straub","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Timothy G.","family":"Barrett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Jones","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hayley","family":"Comins","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon","family":"Gates","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amber R.","family":"Hart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Victoria","family":"Hedley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bl\u00e1naid","family":"Hicks","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin R.","family":"Higgs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Hosken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ameeta","family":"Retzer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah","family":"Scullion","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura A.","family":"Wyatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven J.","family":"Blackburn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.eclinm.2026.104073_bib3","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1038\/s41573-024-01059-3","article-title":"The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap","volume":"24","author":"Jonker","year":"2025","journal-title":"Nat Rev Drug Discov"},{"key":"10.1016\/j.eclinm.2026.104073_bib4","article-title":"The landscape for rare diseases in 2024","volume":"12","author":"The Lancet Global","year":"2024","journal-title":"Lancet Global Health"},{"issue":"10433","key":"10.1016\/j.eclinm.2026.104073_bib5","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1016\/S0140-6736(24)00198-3","article-title":"The impact of rare kidney diseases on kidney failure","volume":"403","author":"Aiyegbusi","year":"2024","journal-title":"Lancet"},{"key":"10.1016\/j.eclinm.2026.104073_bib6","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1186\/s12955-020-01438-5","article-title":"Patient and clinician opinions of patient reported outcome measures (PROMs) in the management of patients with rare diseases: a qualitative study","volume":"18","author":"Aiyegbusi","year":"2020","journal-title":"Health Qual Life Outcome"},{"key":"10.1016\/j.eclinm.2026.104073_bib7","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1056\/NEJMe2508174","article-title":"GM-CSF in Autoimmune pulmonary alveolar proteinosis","volume":"393","author":"Seymour John","year":"2025","journal-title":"N Engl J Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib8","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1186\/s12913-024-11763-w","article-title":"The economic burden of diagnostic uncertainty on rare disease patients","volume":"24","author":"Willmen","year":"2024","journal-title":"BMC Health Serv Res"},{"key":"10.1016\/j.eclinm.2026.104073_bib9","doi-asserted-by":"crossref","first-page":"2194","DOI":"10.1038\/s41436-021-01241-7","article-title":"Can you hear us now? The impact of health-care utilization by rare disease patients in the United States","volume":"23","author":"Navarrete-Opazo","year":"2021","journal-title":"Genet Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib10","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1007\/s10826-024-02790-6","article-title":"Living with a rare disease: psychosocial impacts for parents and family members \u2013 a systematic review","volume":"33","author":"Atkins","year":"2024","journal-title":"J Child Fam Stud"},{"key":"10.1016\/j.eclinm.2026.104073_bib11","doi-asserted-by":"crossref","first-page":"32","DOI":"10.1016\/j.hlpt.2021.02.002","article-title":"The economic and health impact of rare diseases: a meta-analysis","volume":"10","author":"Sequeira","year":"2021","journal-title":"Health Policy Technol"},{"key":"10.1016\/j.eclinm.2026.104073_bib13","doi-asserted-by":"crossref","first-page":"6295","DOI":"10.1038\/s41598-025-87251-w","article-title":"Perception of psychosocial burden in mothers of children with rare pediatric neurological diseases","volume":"15","author":"Walkowiak","year":"2025","journal-title":"Sci Rep"},{"key":"10.1016\/j.eclinm.2026.104073_bib14","doi-asserted-by":"crossref","DOI":"10.1038\/s41598-025-08866-7","article-title":"Rare disease, common struggles: quality of life, caregiver burden and financial wellbeing of family caregivers in Poland","volume":"15","author":"Domaradzki","year":"2025","journal-title":"Sci Rep"},{"key":"10.1016\/j.eclinm.2026.104073_bib15","article-title":"Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers","volume":"5","author":"Contesse","year":"2024","journal-title":"Ther Adv Respir Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib16","author":"Wilsdon"},{"key":"10.1016\/j.eclinm.2026.104073_bib17","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1186\/s13023-022-02299-5","article-title":"The national economic burden of rare disease in the United States in 2019","volume":"17","author":"Yang","year":"2022","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib20","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1111\/bcp.15907","article-title":"Patient-reported, observer-reported and performance outcomes in qualification procedures at the European Medicines Agency 2013\u20132018","volume":"90","author":"Silva","year":"2024","journal-title":"Br J Clin Pharmacol"},{"issue":"6","key":"10.1016\/j.eclinm.2026.104073_bib21","doi-asserted-by":"crossref","first-page":"1262","DOI":"10.1002\/cpt.70022","article-title":"Expediting drug development in Japan: a PMDA perspective","volume":"118","author":"Kohno","year":"2025","journal-title":"Clin Pharmacol Ther"},{"key":"10.1016\/j.eclinm.2026.104073_bib29","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1007\/s12325-024-03038-x","article-title":"Qualitative assessment of health-related quality of life impacts associated with sickle cell disease in the United States and United Kingdom","volume":"42","author":"Drahos","year":"2025","journal-title":"Adv Ther"},{"key":"10.1016\/j.eclinm.2026.104073_bib30","doi-asserted-by":"crossref","first-page":"2005","DOI":"10.1007\/s11136-025-03961-8","article-title":"Health-related quality of life and economic impacts in adults with transfusion-dependent \u03b2-thalassemia: findings from a prospective longitudinal real-world study","volume":"34","author":"Drahos","year":"2025","journal-title":"Qual Life Res"},{"key":"10.1016\/j.eclinm.2026.104073_bib34","doi-asserted-by":"crossref","DOI":"10.1016\/j.jclinepi.2024.111617","article-title":"Patient-reported outcomes and measures are under-utilised in advanced therapy medicinal products trials for orphan conditions","volume":"178","author":"Ciuca","year":"2025","journal-title":"J Clin Epidemiol"},{"key":"10.1016\/j.eclinm.2026.104073_bib35","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.jval.2025.08.020","article-title":"PROM-ising progress? Trends in Patient- and clinician-reported outcome measures in US food and drug administration orphan drug labels","volume":"29","author":"Cribbs","year":"2026","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib36","doi-asserted-by":"crossref","DOI":"10.1212\/WNL.0000000000207958","article-title":"FDA patient-focused drug development guidances","volume":"102","author":"Berg","year":"2024","journal-title":"Neurology"},{"key":"10.1016\/j.eclinm.2026.104073_bib37","doi-asserted-by":"crossref","first-page":"755","DOI":"10.1016\/j.jval.2024.02.011","article-title":"Critical comments by food and drug administration reviewers on patient-reported outcomes in food and drug administration regulatory submissions (2018-2021)","volume":"27","author":"Slota","year":"2024","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib38","doi-asserted-by":"crossref","first-page":"1064","DOI":"10.1136\/bmj.38636.593461.68","article-title":"Effectiveness and efficiency of search methods in systematic reviews of complex evidence: audit of primary sources","volume":"331","author":"Greenhalgh","year":"2005","journal-title":"BMJ (Clinical research ed.)"},{"key":"10.1016\/j.eclinm.2026.104073_bib39","series-title":"Proceedings of the 19th International Conference on Evaluation and Assessment in Software Engineering Article 17","article-title":"Experiences from using snowballing and database searches in systematic literature studies","author":"Badampudi","year":"2015"},{"key":"10.1016\/j.eclinm.2026.104073_bib40","doi-asserted-by":"crossref","DOI":"10.1016\/j.jval.2023.03.1572","article-title":"MSR36 how does the use of different targeted literature review (TLR) methodologies impact the research output? A case study of structured vs. Focused vs. Pearl growing approach","volume":"26","author":"Mangat","year":"2023","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib41","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1080\/13682820600742190","article-title":"Use of information-seeking strategies for developing systematic reviews and engaging in evidence-based practice: the application of traditional and comprehensive pearl growing. A review","volume":"41","author":"Schlosser","year":"2006","journal-title":"Int J Lang Commun Disord"},{"issue":"11","key":"10.1016\/j.eclinm.2026.104073_bib42","doi-asserted-by":"crossref","first-page":"3075","DOI":"10.1038\/s41591-024-03323-w","article-title":"Recommendations to promote equity, diversity and inclusion in decentralized clinical trials","volume":"30","author":"Aiyegbusi","year":"2024","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib43","doi-asserted-by":"crossref","first-page":"838","DOI":"10.1016\/j.jval.2017.05.015","article-title":"Patient-reported outcome and observer-reported outcome assessment in rare disease clinical trials: an ISPOR COA emerging good practices task force report","volume":"20","author":"Benjamin","year":"2017","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib44","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1007\/s40271-020-00493-w","article-title":"The use of patient-reported outcome measures in rare diseases and implications for health technology assessment","volume":"14","author":"Whittal","year":"2021","journal-title":"Patient"},{"key":"10.1016\/j.eclinm.2026.104073_bib45","doi-asserted-by":"crossref","first-page":"764","DOI":"10.1056\/NEJMoa2410542","article-title":"Phase 3 trial of inhaled molgramostim in autoimmune pulmonary alveolar proteinosis","volume":"393","author":"Trapnell","year":"2025","journal-title":"N Engl J Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib46","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1186\/s13023-023-02819-x","article-title":"Composite endpoints, including patient reported outcomes, in rare diseases","volume":"18","author":"Verbeeck","year":"2023","journal-title":"Orphanet J Rare Dis"},{"issue":"11","key":"10.1016\/j.eclinm.2026.104073_bib47","doi-asserted-by":"crossref","first-page":"3601","DOI":"10.1038\/s41591-025-03906-1","article-title":"Patient-reported outcome measures add value as clinical trial endpoints","volume":"31","author":"Crossnohere","year":"2025","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib48","doi-asserted-by":"crossref","first-page":"3772","DOI":"10.1038\/s41591-025-03919-w","article-title":"Oligodendrocyte-targeted adeno-associated virus gene therapy for Canavan disease in children: a phase 1\/2 trial","volume":"31","author":"Leone","year":"2025","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib49","doi-asserted-by":"crossref","first-page":"1898","DOI":"10.1056\/NEJMoa1712649","article-title":"Study of intraventricular cerliponase alfa for CLN2 disease","volume":"378","author":"Schulz","year":"2018","journal-title":"N Engl J Med"},{"issue":"11","key":"10.1016\/j.eclinm.2026.104073_bib50","doi-asserted-by":"crossref","first-page":"3780","DOI":"10.1038\/s41591-025-03920-3","article-title":"Pridopidine in early-stage manifest Huntington's disease: a phase 3 trial","volume":"31","author":"Reilmann","year":"2025","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib51","doi-asserted-by":"crossref","first-page":"2936","DOI":"10.1038\/s41591-025-03784-7","article-title":"The UBE3A-ATS antisense oligonucleotide rugonersen in children with Angelman syndrome: a phase 1 trial","volume":"31","author":"Hipp","year":"2025","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib52","doi-asserted-by":"crossref","first-page":"830","DOI":"10.1016\/S2468-1253(22)00093-0","article-title":"Odevixibat treatment in progressive familial intrahepatic cholestasis: a randomised, placebo-controlled, phase 3 trial","volume":"7","author":"Thompson","year":"2022","journal-title":"Lancet Gastroenterol Hepatol"},{"key":"10.1016\/j.eclinm.2026.104073_bib53","doi-asserted-by":"crossref","first-page":"889","DOI":"10.1038\/d41573-025-00098-8","article-title":"Delivering regulatory impact from consortium-based projects","volume":"24","author":"Brumfield","year":"2025","journal-title":"Nat Rev Drug Discov"},{"key":"10.1016\/j.eclinm.2026.104073_bib54","series-title":"Prescribing Information - ATTRUBY\u2122 (acoramidis)","year":"2024"},{"key":"10.1016\/j.eclinm.2026.104073_bib56","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1002\/cpt.3631","article-title":"Challenges and possible strategies to address them in rare disease drug development: a statistical perspective","volume":"118","author":"Chen","year":"2025","journal-title":"Clin Pharmacol Ther"},{"key":"10.1016\/j.eclinm.2026.104073_bib57","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1038\/s41573-019-0049-9","article-title":"Therapies for rare diseases: therapeutic modalities, progress and challenges ahead","volume":"19","author":"Tambuyzer","year":"2020","journal-title":"Nat Rev Drug Discov"},{"key":"10.1016\/j.eclinm.2026.104073_bib58","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1186\/s13023-017-0718-x","article-title":"Measuring what matters to rare disease patients \u2013 reflections on the work by the IRDiRC taskforce on patient-centered outcome measures","volume":"12","author":"Morel","year":"2017","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib59","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/j.jval.2018.03.004","article-title":"Challenges in research and health technology assessment of rare disease technologies: report of the ISPOR rare disease special interest group","volume":"21","author":"Nestler-Parr","year":"2018","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib60","doi-asserted-by":"crossref","DOI":"10.15252\/emmm.202217159","article-title":"Targeting shared molecular etiologies to accelerate drug development for rare diseases","volume":"15","author":"Zanello","year":"2023","journal-title":"EMBO Mol Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib61","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/s41687-021-00336-8","article-title":"Measuring health-related quality of life in patients with rare disease","volume":"5","author":"Lenderking","year":"2021","journal-title":"J Patient-Rep Outcomes"},{"key":"10.1016\/j.eclinm.2026.104073_bib62","doi-asserted-by":"crossref","first-page":"1279","DOI":"10.1016\/S0140-6736(23)02843-X","article-title":"Effects of rare kidney diseases on kidney failure: a longitudinal analysis of the UK National Registry of Rare Kidney Diseases (RaDaR) cohort","volume":"403","author":"Wong","year":"2024","journal-title":"Lancet"},{"key":"10.1016\/j.eclinm.2026.104073_bib63","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1186\/s13023-021-02061-3","article-title":"The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems","volume":"16","author":"Tisdale","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib64","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1016\/j.jval.2017.05.017","article-title":"Patient-reported outcome and observer-reported outcome assessment in rare disease trials","volume":"20","author":"Acaster","year":"2017","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib65","doi-asserted-by":"crossref","first-page":"845","DOI":"10.1016\/j.jclinepi.2014.03.002","article-title":"Research participation effects: a skeleton in the methodological cupboard","volume":"67","author":"McCambridge","year":"2014","journal-title":"J Clin Epidemiol"},{"key":"10.1016\/j.eclinm.2026.104073_bib66","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1186\/s13023-018-0810-x","article-title":"Patient reported outcome measures in rare diseases: a narrative review","volume":"13","author":"Slade","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib67","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1186\/s13023-019-1004-x","article-title":"Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study","volume":"14","author":"Tosi","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib68","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1186\/s13023-018-0958-4","article-title":"Illustration of patient-reported outcome challenges and solutions in rare diseases: a systematic review in Cushing's syndrome","volume":"13","author":"Knoble","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib69","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1016\/j.jval.2019.03.010","article-title":"Patient-reported outcomes in orphan drug labels approved by the US food and drug administration","volume":"22","author":"Hong","year":"2019","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib70","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1186\/s13023-018-0931-2","article-title":"Recommendations for the design of small population clinical trials","volume":"13","author":"Day","year":"2018","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib71","doi-asserted-by":"crossref","first-page":"175","DOI":"10.1016\/j.jval.2024.10.3846","article-title":"Generative artificial intelligence for health technology assessment: opportunities, challenges, and policy considerations: an ISPOR working group report","volume":"28","author":"Fleurence","year":"2025","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib72","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1186\/s41687-020-00248-z","article-title":"Good practices for the translation, cultural adaptation, and linguistic validation of clinician-reported outcome, observer-reported outcome, and performance outcome measures","volume":"4","author":"McKown","year":"2020","journal-title":"J Patient-Rep Outcomes"},{"key":"10.1016\/j.eclinm.2026.104073_bib73","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/s40271-022-00598-4","article-title":"Improving interpretation of evidence relating to quality of life in health technology assessments of rare disease treatments","volume":"16","author":"Nicod","year":"2023","journal-title":"Patient"},{"key":"10.1016\/j.eclinm.2026.104073_bib74","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1001\/jama.2017.21903","article-title":"Guidelines for inclusion of patient-reported outcomes in clinical trial protocols: the SPIRIT-PRO extension","volume":"319","author":"Calvert","year":"2018","journal-title":"JAMA"},{"issue":"3","key":"10.1016\/j.eclinm.2026.104073_bib75","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1038\/s41591-024-02827-9","article-title":"Recommendations to address respondent burden associated with patient-reported outcome assessment","volume":"30","author":"Aiyegbusi","year":"2024","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib76","doi-asserted-by":"crossref","first-page":"1922","DOI":"10.1038\/s41591-023-02445-x","article-title":"Considerations for patient and public involvement and engagement in health research","volume":"29","author":"Aiyegbusi","year":"2023","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib77","doi-asserted-by":"crossref","first-page":"6026","DOI":"10.1038\/s41467-022-33826-4","article-title":"Key considerations to reduce or address respondent burden in patient-reported outcome (PRO) data collection","volume":"13","author":"Aiyegbusi","year":"2022","journal-title":"Nat Commun"},{"key":"10.1016\/j.eclinm.2026.104073_bib78","doi-asserted-by":"crossref","DOI":"10.1016\/j.eclinm.2024.102838","article-title":"Advancing patient-centric care: integrating patient reported outcomes for tolerability assessment in early phase clinical trials \u2013 insights from an expert virtual roundtable","volume":"76","author":"Yap","year":"2024","journal-title":"EClinicalMedicine"},{"key":"10.1016\/j.eclinm.2026.104073_bib79","first-page":"e549","article-title":"Guidelines for clinical trial protocols for interventions involving artificial intelligence: the SPIRIT-AI extension","volume":"2","author":"Cruz Rivera","year":"2020","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib80","doi-asserted-by":"crossref","first-page":"3259","DOI":"10.1038\/s41591-023-02665-1","article-title":"A toolkit for capturing a representative and equitable sample in health research","volume":"29","author":"Retzer","year":"2023","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib82","doi-asserted-by":"crossref","first-page":"959","DOI":"10.1016\/j.jval.2023.05.003","article-title":"Recommendations on the selection, development, and modification of performance outcome assessments: a good practices report of an ISPOR task force","volume":"26","author":"Edgar","year":"2023","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib83","doi-asserted-by":"crossref","first-page":"828","DOI":"10.1016\/S0140-6736(24)01552-6","article-title":"Integrating patient and public involvement and engagement in translational medicine","volume":"404","author":"Shaw","year":"2024","journal-title":"Lancet"},{"key":"10.1016\/j.eclinm.2026.104073_bib84","doi-asserted-by":"crossref","first-page":"134","DOI":"10.1186\/s13023-020-01400-0","article-title":"To what degree are orphan drugs patient-centered? A review of the current state of clinical research in rare diseases","volume":"15","author":"Lanar","year":"2020","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib85","doi-asserted-by":"crossref","first-page":"270","DOI":"10.3389\/fmed.2018.00270","article-title":"EUPATI guidance for patient involvement in medicines research and development (R&D); guidance for pharmaceutical industry-led medicines R&D","volume":"5","author":"Warner","year":"2018","journal-title":"Front Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib86","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1111\/dmcn.13277","article-title":"Development of a patient-reported outcome measure for upper limb function in Duchenne muscular dystrophy: DMD Upper Limb PROM","volume":"59","author":"Klingels","year":"2017","journal-title":"Dev Med Child Neurol"},{"issue":"5","key":"10.1016\/j.eclinm.2026.104073_bib87","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1038\/d41573-023-00031-x","article-title":"The opportunity for greater patient and public involvement and engagement in drug development and regulation","volume":"22","author":"Aiyegbusi","year":"2023","journal-title":"Nat Rev Drug Discov"},{"key":"10.1016\/j.eclinm.2026.104073_bib92","doi-asserted-by":"crossref","DOI":"10.1016\/j.eclinm.2025.103256","article-title":"Measure selection for an electronic patient-reported outcome (ePRO) system for CAR T-cell therapy patients: a modified Delphi consensus study","volume":"84","author":"Hughes","year":"2025","journal-title":"EClinicalMedicine"},{"key":"10.1016\/j.eclinm.2026.104073_bib93","doi-asserted-by":"crossref","DOI":"10.1177\/30502225251336880","article-title":"Development of a patient and caregiver-centered pediatric disease concept model for kleefstra syndrome","volume":"12","author":"Connors","year":"2025","journal-title":"Sage Open Pediatr"},{"key":"10.1016\/j.eclinm.2026.104073_bib94","doi-asserted-by":"crossref","first-page":"16945","DOI":"10.1002\/cam4.6325","article-title":"Clinical outcome assessment trends in clinical trials-Contrasting oncology and non-oncology trials","volume":"12","author":"Kim","year":"2023","journal-title":"Cancer Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib95","article-title":"Advancing rare disease measurement through the Rare Disease Clinical Outcome Assessment Consortium","volume":"5","author":"Knoble","year":"2024","journal-title":"Ther Adv Respir Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib97","doi-asserted-by":"crossref","first-page":"e86","DOI":"10.1016\/S1470-2045(22)00654-4","article-title":"Recommendations on the use of item libraries for patient-reported outcome measurement in oncology trials: findings from an international, multidisciplinary working group","volume":"24","author":"Piccinin","year":"2023","journal-title":"Lancet Oncol"},{"key":"10.1016\/j.eclinm.2026.104073_bib99","doi-asserted-by":"crossref","DOI":"10.1136\/bmj-2022-070230","article-title":"Development and validation of the symptom burden questionnaire for long covid (SBQ-LC): Rasch analysis","volume":"377","author":"Hughes","year":"2022","journal-title":"BMJ"},{"key":"10.1016\/j.eclinm.2026.104073_bib101","author":"Library"},{"key":"10.1016\/j.eclinm.2026.104073_bib103","first-page":"5","volume":"Vol. 9","author":"Poritz","year":"2023"},{"key":"10.1016\/j.eclinm.2026.104073_bib104","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1007\/s11136-019-02312-8","article-title":"A comparison of computer adaptive tests (CATs) and short forms in terms of accuracy and number of items administrated using PROMIS profile","volume":"29","author":"Segawa","year":"2020","journal-title":"Qual Life Res"},{"key":"10.1016\/j.eclinm.2026.104073_bib105","doi-asserted-by":"crossref","first-page":"1075","DOI":"10.1111\/j.1524-4733.2009.00603.x","article-title":"Use of existing patient-reported outcome (PRO) instruments and their modification: the ISPOR good research practices for evaluating and documenting content validity for the use of existing instruments and their modification PRO task force report","volume":"12","author":"Rothman","year":"2009","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib106","doi-asserted-by":"crossref","first-page":"967","DOI":"10.1016\/j.jval.2011.06.014","article-title":"Content validity-establishing and reporting the evidence in newly developed patient-reported outcomes (PRO) instruments for medical product evaluation: ISPOR PRO good research practices task force report: part 1 eliciting concepts for a new PRO instrument","volume":"14","author":"Patrick","year":"2011","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib107","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s41687-018-0043-8","article-title":"Towards the use of mixed methods inquiry as best practice in health outcomes research","volume":"2","author":"Regnault","year":"2017","journal-title":"J Patient-Rep Outcomes"},{"key":"10.1016\/j.eclinm.2026.104073_bib108","doi-asserted-by":"crossref","DOI":"10.1016\/j.yebeh.2025.110381","article-title":"Qualitative evaluation of meaningful change in Dravet syndrome as measured by the Vineland-3: caregiver and clinician perspectives","volume":"167","author":"Condon","year":"2025","journal-title":"Epilepsy Behav"},{"key":"10.1016\/j.eclinm.2026.104073_bib109","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1186\/s41687-019-0100-y","article-title":"An overview of using qualitative techniques to explore and define estimates of clinically important change on clinical outcome assessments","volume":"3","author":"Staunton","year":"2019","journal-title":"J Patient-Rep Outcomes"},{"key":"10.1016\/j.eclinm.2026.104073_bib110","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1007\/s11136-018-1829-0","article-title":"COSMIN methodology for evaluating the content validity of patient-reported outcome measures: a Delphi study","volume":"27","author":"Terwee","year":"2018","journal-title":"Qual Life Res"},{"key":"10.1016\/j.eclinm.2026.104073_bib111","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1186\/s41687-024-00829-2","article-title":"Development and refinement of the clinical global impression of improvement for non-seizure symptoms measure in Dravet syndrome and lennox-gastaut syndrome","volume":"9","author":"Andrews","year":"2025","journal-title":"J Patient-Rep Outcomes"},{"key":"10.1016\/j.eclinm.2026.104073_bib112","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1212\/WNL.0b013e318208824b","article-title":"Rasch-built Overall Disability Scale (R-ODS) for immune-mediated peripheral neuropathies","volume":"76","author":"van Nes","year":"2011","journal-title":"Neurology"},{"key":"10.1016\/j.eclinm.2026.104073_bib113","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1001\/jamaoncol.2016.5299","article-title":"Novel precision medicine trial designs: umbrellas and baskets","volume":"3","author":"West","year":"2017","journal-title":"JAMA Oncol"},{"key":"10.1016\/j.eclinm.2026.104073_bib114","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1186\/s13023-024-03264-0","article-title":"PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability","volume":"19","author":"van Silfhout","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib115","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1186\/s40900-021-00304-y","article-title":"Patient and family engagement in the development of core outcome sets for two rare chronic diseases in children","volume":"7","author":"Vanderhout","year":"2021","journal-title":"Res Involv Engagem"},{"key":"10.1016\/j.eclinm.2026.104073_bib117","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1007\/s43441-024-00739-x","article-title":"A consistent lack of consistency: definitions, evidentiary expectations and potential use of meaningful change data in clinical outcome assessments across stakeholders. Results from a DIA working group literature review and survey","volume":"59","author":"Reaney","year":"2025","journal-title":"Ther Innov Regul Sci"},{"key":"10.1016\/j.eclinm.2026.104073_bib118","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1016\/j.jval.2024.12.006","article-title":"Evolving concept of value in health economics and outcomes research: emerging tools for innovation and access to cell and gene therapies for rare diseases","volume":"28","author":"Toro","year":"2025","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib119","doi-asserted-by":"crossref","first-page":"1116","DOI":"10.1016\/j.jval.2021.11.1373","article-title":"A conceptual framework for life-cycle health technology assessment","volume":"25","author":"Kirwin","year":"2022","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib120","doi-asserted-by":"crossref","first-page":"2445","DOI":"10.1007\/s11136-020-02497-3","article-title":"Parental health spillover effects of paediatric rare genetic conditions","volume":"29","author":"Wu","year":"2020","journal-title":"Qual Life Res"},{"key":"10.1016\/j.eclinm.2026.104073_bib121","doi-asserted-by":"crossref","DOI":"10.1016\/j.socscimed.2019.112382","article-title":"Six mechanisms behind carer wellbeing effects: a qualitative study of healthcare delivery","volume":"235","author":"Al-Janabi","year":"2019","journal-title":"Soc Sci Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib122","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s40273-023-01321-3","article-title":"Recommendations for emerging good practice and future research in relation to family and caregiver health spillovers in health economic evaluations: a report of the SHEER task force","volume":"42","author":"Henry","year":"2024","journal-title":"Pharmacoeconomics"},{"key":"10.1016\/j.eclinm.2026.104073_bib123","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1177\/0272989X15605094","article-title":"A framework for including family health spillovers in economic evaluation","volume":"36","author":"Al-Janabi","year":"2016","journal-title":"Med Decis Mak"},{"key":"10.1016\/j.eclinm.2026.104073_bib124","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1007\/s40273-023-01316-0","article-title":"Modelling spillover effects on informal carers: the carer QALY trap","volume":"41","author":"Mott","year":"2023","journal-title":"Pharmacoeconomics"},{"key":"10.1016\/j.eclinm.2026.104073_bib125","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1016\/j.jval.2020.10.014","article-title":"Can the consideration of societal costs change the recommendation of economic evaluations in the field of rare diseases? An empirical analysis","volume":"24","author":"Aranda-Reneo","year":"2021","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib126","doi-asserted-by":"crossref","first-page":"1644","DOI":"10.1016\/j.jval.2022.02.008","article-title":"Systematic review of cost-utility analyses that have included carer and family member health-related quality of life","volume":"25","author":"Scope","year":"2022","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib127","first-page":"1013","article-title":"Development of stakeholder-informed recommendations for inclusion of family spillover effects in health technology assessment","volume":"30","author":"Campbell","year":"2024","journal-title":"J Manag Care Spec Pharm"},{"key":"10.1016\/j.eclinm.2026.104073_bib128","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1007\/s40273-025-01540-w","article-title":"Caring for and caring about in economic evaluation: modelling the family and caregiving effects","volume":"44","author":"Pennington","year":"2026","journal-title":"Pharmacoeconomics"},{"key":"10.1016\/j.eclinm.2026.104073_bib129","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1007\/s40258-023-00834-4","article-title":"Modelling informal carers' health-related quality of life: challenges for economic evaluation","volume":"22","author":"Pennington","year":"2024","journal-title":"Appl Health Econ Health Policy"},{"issue":"5","key":"10.1016\/j.eclinm.2026.104073_bib130","doi-asserted-by":"crossref","first-page":"328","DOI":"10.1136\/bmjebm-2023-112253","article-title":"Digitally enabled decentralised research: opportunities to improve the efficiency of clinical trials and observational studies","volume":"28","author":"Aiyegbusi","year":"2023","journal-title":"BMJ Evid Based Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib131","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2025.101634","article-title":"RARE-X: a patient-driven approach for collecting symptom and patient-reported outcome data in rare diseases","volume":"28","author":"Vogel-Farley","year":"2026","journal-title":"Genet Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib132","doi-asserted-by":"crossref","first-page":"1773","DOI":"10.1038\/s41591-022-01981-2","article-title":"Multimodal biomedical AI","volume":"28","author":"Acosta","year":"2022","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib135","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1007\/s11136-019-02329-z","article-title":"Key methodological considerations for usability testing of electronic patient-reported outcome (ePRO) systems","volume":"29","author":"Aiyegbusi","year":"2020","journal-title":"Qual Life Res"},{"key":"10.1016\/j.eclinm.2026.104073_bib136","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/s41576-023-00674-x","article-title":"The transition from genomics to phenomics in personalized population health","volume":"25","author":"Yurkovich","year":"2024","journal-title":"Nat Rev Genet"},{"key":"10.1016\/j.eclinm.2026.104073_bib137","doi-asserted-by":"crossref","first-page":"389","DOI":"10.1007\/s40271-021-00569-1","article-title":"Time to see the difference: video capture for patient-centered clinical trials","volume":"15","author":"Davies","year":"2022","journal-title":"Patient"},{"key":"10.1016\/j.eclinm.2026.104073_bib138","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1008935","article-title":"Two-dimensional video-based analysis of human gait using pose estimation","volume":"17","author":"Stenum","year":"2021","journal-title":"PLoS Comput Biol"},{"issue":"6","key":"10.1016\/j.eclinm.2026.104073_bib139","doi-asserted-by":"crossref","first-page":"1120","DOI":"10.1038\/s41591-022-01781-8","article-title":"Patient reported outcome assessment must be inclusive and equitable","volume":"28","author":"Calvert","year":"2022","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib140","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1038\/s41591-024-03434-4","article-title":"Artificial intelligence in drug development","volume":"31","author":"Zhang","year":"2025","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib141","doi-asserted-by":"crossref","first-page":"3968","DOI":"10.1038\/s41591-025-04008-8","article-title":"The fragile intelligence of GPT-5 in medicine","volume":"31","author":"Handler","year":"2025","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib142","doi-asserted-by":"crossref","first-page":"e64","DOI":"10.1016\/S2589-7500(24)00224-3","article-title":"Tackling algorithmic bias and promoting transparency in health datasets: the STANDING Together consensus recommendations","volume":"7","author":"Alderman","year":"2025","journal-title":"Lancet Digit Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib143","doi-asserted-by":"crossref","DOI":"10.1016\/j.eclinm.2025.103729","article-title":"Navigating open data sharing and privacy in the age of clinical AI research: from reidentification to pseudo-reidentification","volume":"91","author":"Hallaj","year":"2026","journal-title":"EClinicalMedicine"},{"key":"10.1016\/j.eclinm.2026.104073_bib146","series-title":"Guiding Principles of Good AI Practice in Drug Development","year":"2026"},{"key":"10.1016\/j.eclinm.2026.104073_bib147","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1038\/s41746-025-02165-1","article-title":"Best practice recommendations and considerations for designing and electronically implementing event-driven diaries in clinical trials","volume":"8","author":"Mowlem","year":"2025","journal-title":"npj Digit Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib148","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1007\/s40271-024-00726-2","article-title":"Qualitative In-trial interviews: methods, challenges, and best practice","volume":"18","author":"Williamson","year":"2025","journal-title":"Patient"},{"key":"10.1016\/j.eclinm.2026.104073_bib149","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1007\/s40271-025-00795-x","article-title":"Beyond numbers: uses and value of In-Trial interview data for regulatory and health technology assessment (HTA) decision making","volume":"19","author":"Dias-Barbosa","year":"2026","journal-title":"Patient"},{"key":"10.1016\/j.eclinm.2026.104073_bib150","doi-asserted-by":"crossref","first-page":"699","DOI":"10.1007\/s40271-025-00755-5","article-title":"Patient-reported meaningful change in symptoms and impacts of paroxysmal nocturnal hemoglobinuria (PNH) in three phase III clinical trials of iptacopan","volume":"18","author":"DeCastro","year":"2025","journal-title":"Patient"},{"key":"10.1016\/j.eclinm.2026.104073_bib151","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1007\/s12325-019-00920-x","article-title":"The case for the use of patient and caregiver perception of change assessments in rare disease clinical trials: a methodologic overview","volume":"36","author":"Contesse","year":"2019","journal-title":"Adv Ther"},{"key":"10.1016\/j.eclinm.2026.104073_bib152","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1186\/s13023-024-03277-9","article-title":"Pozelimab for CHAPLE disease: results from in-trial interviews and clinical outcome assessments","volume":"19","author":"Litcher-Kelly","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.eclinm.2026.104073_bib153","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1186\/s12874-019-0866-x","article-title":"Goal attainment scaling as an outcome measure in rare disease trials: a conceptual proposal for validation","volume":"19","author":"Gaasterland","year":"2019","journal-title":"BMC Med Res Methodol"},{"key":"10.1016\/j.eclinm.2026.104073_bib154","doi-asserted-by":"crossref","first-page":"37","DOI":"10.1186\/s41687-024-00716-w","article-title":"A systematic review of goal attainment scaling implementation practices by caregivers in randomized controlled trials","volume":"8","author":"Cheema","year":"2024","journal-title":"J Patient-Rep Outcomes"},{"key":"10.1016\/j.eclinm.2026.104073_bib155","doi-asserted-by":"crossref","DOI":"10.1016\/j.ymgme.2025.109087","article-title":"Goal attainment in PMM2-CDG: a new approach measuring meaningful clinical outcomes","volume":"145","author":"Verberkmoes","year":"2025","journal-title":"Mol Genet Metab"},{"key":"10.1016\/j.eclinm.2026.104073_bib156","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1186\/s12874-016-0205-4","article-title":"A systematic review to investigate the measurement properties of goal attainment scaling, towards use in drug trials","volume":"16","author":"Gaasterland","year":"2016","journal-title":"BMC Med Res Methodol"},{"key":"10.1016\/j.eclinm.2026.104073_bib157","doi-asserted-by":"crossref","DOI":"10.1016\/j.currproblcancer.2021.100769","article-title":"Using real world data to support regulatory approval of drugs in rare diseases: a review of opportunities, limitations & a case example","volume":"45","author":"Gross","year":"2021","journal-title":"Curr Probl Cancer"},{"key":"10.1016\/j.eclinm.2026.104073_bib158","doi-asserted-by":"crossref","DOI":"10.1177\/2326409818788382","article-title":"An adapted clinical measurement tool for the key symptoms of CLN2 disease","volume":"6","author":"Wyrwich","year":"2018","journal-title":"J Inborn Errors Metab Screen"},{"key":"10.1016\/j.eclinm.2026.104073_bib161","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1111\/bcp.15003","article-title":"Learning from remote decentralised clinical trial experiences: a qualitative analysis of interviews with trial personnel, patient representatives and other stakeholders","volume":"88","author":"Coyle","year":"2022","journal-title":"Br J Clin Pharmacol"},{"key":"10.1016\/j.eclinm.2026.104073_bib162","doi-asserted-by":"crossref","DOI":"10.3389\/fdgth.2022.963741","article-title":"Participant retention in a fully remote trial of digital psychotherapy: comparison of incentive types","volume":"4","author":"Griffith Fillipo","year":"2022","journal-title":"Front Digit Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib163","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1186\/s13063-022-06521-4","article-title":"A secondary qualitative analysis of stakeholder views about participant recruitment, retention, and adherence in decentralised clinical trials (DCTs)","volume":"23","author":"Coyle","year":"2022","journal-title":"Trials"},{"key":"10.1016\/j.eclinm.2026.104073_bib164","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1177\/10901981241292275","article-title":"Community social networking for Ehlers\u2013Danlos syndrome","volume":"52","author":"Callen","year":"2025","journal-title":"Health Educ Behav"},{"key":"10.1016\/j.eclinm.2026.104073_bib165","doi-asserted-by":"crossref","first-page":"20","DOI":"10.1001\/jamaoto.2019.3022","article-title":"Comparative treatment outcomes for patients with idiopathic subglottic stenosis","volume":"146","author":"Gelbard","year":"2020","journal-title":"JAMA Otolaryngol Head Neck Surg"},{"key":"10.1016\/j.eclinm.2026.104073_bib167","doi-asserted-by":"crossref","first-page":"58","DOI":"10.1038\/s41746-022-00603-y","article-title":"Opportunities and counterintuitive challenges for decentralized clinical trials to broaden participant inclusion","volume":"5","author":"Goodson","year":"2022","journal-title":"npj Digit Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib168","doi-asserted-by":"crossref","first-page":"731","DOI":"10.1038\/d41573-019-00088-7","article-title":"Harnessing the patient voice in real-world evidence: the essential role of patient-reported outcomes","volume":"18","author":"Calvert","year":"2019","journal-title":"Nat Rev Drug Discov"},{"key":"10.1016\/j.eclinm.2026.104073_bib169","first-page":"1868","article-title":"Patient-reported outcomes now and into the future: multistakeholder perspectives on optimizing the use of patient-reported outcome evidence in decision making across the US healthcare continuum","volume":"28","author":"Randhawa","year":"2025","journal-title":"Value Health"},{"key":"10.1016\/j.eclinm.2026.104073_bib170","doi-asserted-by":"crossref","first-page":"1836","DOI":"10.1038\/s41591-024-03035-1","article-title":"Enhancing pediatric access to cell and gene therapies","volume":"30","author":"Mackall","year":"2024","journal-title":"Nat Med"},{"key":"10.1016\/j.eclinm.2026.104073_bib171","doi-asserted-by":"crossref","DOI":"10.1016\/j.eclinm.2026.103872","article-title":"Hip displacement management in spinal muscular atrophy in the era of disease modifying therapies: a Delphi consensus study in the UK","volume":"95","author":"Vanegas","year":"2026","journal-title":"EClinicalMedicine"},{"key":"10.1016\/j.eclinm.2026.104073_bib172","doi-asserted-by":"crossref","first-page":"116","DOI":"10.5662\/wjm.v11.i4.116","article-title":"Delphi methodology in healthcare research: how to decide its appropriateness","volume":"11","author":"Nasa","year":"2021","journal-title":"World J Methodol"}],"container-title":["eClinicalMedicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589537026003263?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2589537026003263?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,24]],"date-time":"2026-08-24T08:26:38Z","timestamp":1787559998000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2589537026003263"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8]]},"references-count":139,"alternative-id":["S2589537026003263"],"URL":"https:\/\/doi.org\/10.1016\/j.eclinm.2026.104073","relation":{},"ISSN":["2589-5370"],"issn-type":[{"value":"2589-5370","type":"print"}],"subject":[],"published":{"date-parts":[[2026,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Recommendations for the use of clinical outcome assessments in rare disease drug development","name":"articletitle","label":"Article Title"},{"value":"eClinicalMedicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.eclinm.2026.104073","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Author(s). Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"104073"}}