{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T03:30:09Z","timestamp":1773372609862,"version":"3.50.1"},"reference-count":30,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,2,1]],"date-time":"2026-02-01T00:00:00Z","timestamp":1769904000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T00:00:00Z","timestamp":1773100800000},"content-version":"vor","delay-in-days":37,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["bmn.com","clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Current Opinion in Pharmacology"],"published-print":{"date-parts":[[2026,2]]},"DOI":"10.1016\/j.coph.2025.102586","type":"journal-article","created":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T05:40:39Z","timestamp":1763444439000},"page":"102586","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":0,"special_numbering":"C","title":["Real-world evidence supporting orphan drugs approvals for rare neuromuscular disorders in the European Union and the United States: Review of public assessment reports (2015\u20132025)"],"prefix":"10.1016","volume":"86","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4458-2711","authenticated-orcid":false,"given":"Beliu","family":"Garc\u00eda-Parra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josep M.","family":"Guiu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Povedano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pilar","family":"Modamio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.coph.2025.102586_bib1","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1186\/s13023-024-03146-5","article-title":"Rare disease clinical trials in the European Union: navigating regulatory and clinical challenges","volume":"19","author":"Mishra","year":"2024","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.coph.2025.102586_bib2","unstructured":"Real-World evidence. The U.S Food and Drug Administration. In: https:\/\/www.fda.gov\/science-research\/science-and-research-special-topics\/real-world-evidence. Accessed 6 June 2025."},{"key":"10.1016\/j.coph.2025.102586_bib3","doi-asserted-by":"crossref","first-page":"109","DOI":"10.1186\/s12874-023-01937-1","article-title":"Real-world data: a brief review of the methods, applications, challenges and opportunities","volume":"23","author":"Liu","year":"2023","journal-title":"BMC Med Res Methodol"},{"key":"10.1016\/j.coph.2025.102586_bib4","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1111\/cts.12559","article-title":"Innovation at the intersection of clinical trials and real-world data science to advance patient care","volume":"11","author":"Swift","year":"2018","journal-title":"Clin Transl Sci"},{"key":"10.1016\/j.coph.2025.102586_bib5","unstructured":"FDA, FDA real-world evidence. Content current as of 2025. In: https:\/\/www.fda.gov\/science-research\/science-and-research-special-topics\/real-world-evidence (Accessed 27 February 2025)."},{"key":"10.1016\/j.coph.2025.102586_bib6","doi-asserted-by":"crossref","first-page":"2293","DOI":"10.1056\/NEJMsb1609216","article-title":"Real-World evidence - what is it and what can it tell us?","volume":"375","author":"Sherman","year":"2016","journal-title":"N Engl J Med"},{"key":"10.1016\/j.coph.2025.102586_sref7","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1002\/cpt.2988","article-title":"Clinical pharmacology applications of real-world data and real-world evidence in drug development and Approval-An industry perspective","volume":"114","author":"Zhu","year":"2023","journal-title":"Clin Pharmacol Ther"},{"key":"10.1016\/j.coph.2025.102586_bib8","series-title":"Technologies in Health (CADTH) and Health Canada, Guidance for reporting real-world evidence","first-page":"14","year":"2023"},{"key":"10.1016\/j.coph.2025.102586_sref9","doi-asserted-by":"crossref","first-page":"106882","DOI":"10.1016\/j.cct.2022.106882","article-title":"Implementation of patient-reported outcome measures in real-world evidence studies: analysis of clinicalTrials.gov records (1999-2021)","volume":"120","author":"Maruszczyk","year":"2022","journal-title":"Contemp Clin Trials"},{"key":"10.1016\/j.coph.2025.102586_bib10","unstructured":"Real-world evidence provided by EMA. Support for regulatory decision-making. In: https:\/\/www.ema.europa.eu\/en\/documents\/other\/guide-real-world-evidence-provided-ema-support-regulatory-decision-making_en.pdf Accessed 6 June 2025."},{"key":"10.1016\/j.coph.2025.102586_bib11","unstructured":"Regulatory science to 2025, published on 31 March 2020.In: https:\/\/www.ema.europa.eu\/en\/about-us\/how-we-work\/regulatory-science-strategy (Accessed 20 June 2025)."},{"key":"10.1016\/j.coph.2025.102586_bib12","unstructured":"21st century cures act. Content current as of: 31 January 2020. In: https:\/\/www.fda.gov\/regulatory-information\/selected-amendments-fdc-act\/21st-century-cures-act (Accessed 21 June 2025)."},{"key":"10.1016\/j.coph.2025.102586_bib13","unstructured":"Clinical outcome assessments (COAs) in medical device decision making. Content current as of: 30 January 2025. In: https:\/\/www.fda.gov\/about-fda\/division-patient-centered-development\/clinical-outcome-assessments-coas-medical-device-decision-making (Accessed 6 March 2025)."},{"key":"10.1016\/j.coph.2025.102586_bib14","unstructured":"The National Center for Advancing Translational Sciences. Toolkit for patient-focused therapy development. Clinical outcome assessment. In: https:\/\/toolkit.ncats.nih.gov\/glossary\/clinical-outcome-assessment\/Accessed 8 March 2025."},{"key":"10.1016\/j.coph.2025.102586_bib17","unstructured":"European Medicines Agency, In: https:\/\/www.ema.europa.eu\/en\/search?f%5B0%5D=ema_search_categories%3A83&f%5B1%5D=ema_search_categories%3A84&f%5B2%5D=ema_search_categories%3A85&landing_from=73303 (Accessed 5 March 2025)."},{"key":"10.1016\/j.coph.2025.102586_bib19","unstructured":"FDA, Accelerated approval program. Content current as of 2025.In: https:\/\/www.fda.gov\/drugs\/nda-and-bla-approvals\/accelerated-approval-program (Accessed 24 October 2025)."},{"key":"10.1016\/j.coph.2025.102586_bib20","unstructured":"European Medicines Agency. Conditional marketing authorisation, In: https:\/\/www.ema.europa.eu\/en\/human-regulatory-overview\/marketing-authorisation\/conditional-marketing-authorisation (Accessed 24 October 2025)."},{"key":"10.1016\/j.coph.2025.102586_bib21","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1007\/s40261-024-01371-1","article-title":"Sodium phenylbutyrate and tauroursodeoxycholic acid: a story of hope turned to disappointment in amyotrophic lateral sclerosis treatment","volume":"44","author":"Ketabforoush","year":"2024","journal-title":"Clin Drug Invest"},{"key":"10.1016\/j.coph.2025.102586_bib22","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1002\/cpt.1638","article-title":"Are novel, nonrandomized analytic methods fit for decision making? The need for prospective, controlled, and transparent validation","volume":"107","author":"Eichler","year":"2020","journal-title":"Clin Pharmacol Ther"},{"key":"10.1016\/j.coph.2025.102586_bib23","unstructured":"Prescription drug user fee amendments. Content current as of 2025. In: https:\/\/www.fda.gov\/industry\/fda-user-fee-programs\/prescription-drug-user-fee-amendments (Accessed 18 April 2025)."},{"key":"10.1016\/j.coph.2025.102586_sref24","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1002\/cpt.3579","article-title":"Harmonizing HTA evidence needs and expectations: challenges and opportunities to improve evidence generation, ensure access and affordability","volume":"117","author":"Emond","year":"2025","journal-title":"Clin Pharmacol Ther"},{"key":"10.1016\/j.coph.2025.102586_sref25","doi-asserted-by":"crossref","first-page":"2933","DOI":"10.1007\/s10072-023-06825-6","article-title":"Patient-reported outcome measures in drugs for neurological conditions approved by European Medicines Agency 2017-2022","volume":"44","author":"Ciani","year":"2023","journal-title":"Neurol Sci"},{"key":"10.1016\/j.coph.2025.102586_sref26","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/cpt.2766","article-title":"Contribution of real-world evidence in European medicines agency's regulatory decision making","volume":"113","author":"Bakker","year":"2023","journal-title":"Clin Pharmacol Ther"},{"key":"10.1016\/j.coph.2025.102586_bib27","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1002\/cpt.2461","article-title":"Marketing authorization applications made to the European Medicines Agency in 2018-2019: what was the contribution of real-world evidence?","volume":"111","author":"Flynn","year":"2022","journal-title":"Clin Pharmacol Ther"},{"key":"10.1016\/j.coph.2025.102586_bib28","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1002\/cpt.2479","article-title":"Real-world evidence in EU medicines regulation: enabling use and establishing value","volume":"111","author":"Arlett","year":"2022","journal-title":"Clin Pharmacol Ther"},{"key":"10.1016\/j.coph.2025.102586_bib29","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/j.farma.2025.02.011","article-title":"Real-world evidence for regulatory purposes: the example of DARWIN EU\u00ae","volume":"49","author":"Raventos","year":"2025","journal-title":"Farm Hosp"},{"key":"10.1016\/j.coph.2025.102586_bib30","doi-asserted-by":"crossref","first-page":"1213","DOI":"10.1002\/pds.4962","article-title":"Use of real-world evidence in regulatory decisions for rare diseases in the United States-Current status and future directions","volume":"29","author":"Wu","year":"2020","journal-title":"Pharmacoepidemiol Drug Saf"},{"key":"10.1016\/j.coph.2025.102586_bib31","unstructured":"Rare Diseases: Natural history studies for drug Development Guidance for Industry. In: https:\/\/www.fda.gov\/media\/122425\/download Accessed 10 September 2025."},{"key":"10.1016\/j.coph.2025.102586_bib32","doi-asserted-by":"crossref","first-page":"101248","DOI":"10.1016\/j.lanepe.2025.101248","article-title":"Real-world evidence in spinal muscular atrophy: addressing heterogeneity of populations and treatment comparisons","volume":"52","author":"Ropars","year":"2025","journal-title":"Lancet Reg Health Eur"},{"key":"10.1016\/j.coph.2025.102586_bib33","doi-asserted-by":"crossref","first-page":"101092","DOI":"10.1016\/j.lanepe.2024.101092","article-title":"Efficacy and safety of gene therapy with onasemnogene abeparvovec in children with spinal muscular atrophy in the D-A-CH-region: a population-based observational study","volume":"47","author":"Wei\u00df","year":"2024","journal-title":"Lancet Reg Health Eur"}],"container-title":["Current Opinion in Pharmacology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1471489225000827?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1471489225000827?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T17:01:57Z","timestamp":1773334917000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1471489225000827"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2]]},"references-count":30,"alternative-id":["S1471489225000827"],"URL":"https:\/\/doi.org\/10.1016\/j.coph.2025.102586","relation":{},"ISSN":["1471-4892"],"issn-type":[{"value":"1471-4892","type":"print"}],"subject":[],"published":{"date-parts":[[2026,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Real-world evidence supporting orphan drugs approvals for rare neuromuscular disorders in the European Union and the United States: Review of public assessment reports (2015\u20132025)","name":"articletitle","label":"Article Title"},{"value":"Current Opinion in Pharmacology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.coph.2025.102586","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 The Authors. Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}],"article-number":"102586"}}