{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T04:15:24Z","timestamp":1787804124815,"version":"build-2784847793"},"reference-count":40,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100022416","name":"Center for Drug Evaluation and Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100022416","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Therapeutic Advances in Rare Disease"],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:p>There is a significant unmet need to develop and evaluate new treatments for people living with one of approximately 8000 rare diseases. Well-known difficulties in conducting clinical trials (e.g., small samples, wide geographic distribution, heterogeneous symptoms) and developing products for these rare indications persist. Identifying outcomes in rare disease clinical trials remains a hurdle that contributes to the challenges for drug and gene therapy development due to uncertainty about what aspects of a condition to measure for safety and efficacy and often with no regulatory approval precedent. To accelerate rare disease treatments by advancing outcomes measurement, the US Food and Drug Administration (FDA) funded a cooperative agreement to establish the Rare Disease COA Consortium (RD-COAC) in 2019. The RD-COAC officially launched on January 1, 2022, with the mission to enable pre-competitive, multi-stakeholder collaboration aimed at identifying scientifically sound tools and methodologies for collecting clinically meaningful and patient-centric outcomes data in treatment trials for rare diseases. The RD-COAC has four complementary workstreams to advance COA measurement for rare disease clinical trials: (1) Rare Disease COA Resource; (2) Advancing COA Measurement Topic-Focused Working Groups; (3) Rare Disease Discussion Sessions for pre-competitive collaboration and shared learnings among RD-COAC members; and (4) Dissemination. This review provides an overview of the RD-COAC\u2019s activities to date, as well as future directions and opportunities to collaborate.<\/jats:p>","DOI":"10.1177\/26330040241307962","type":"journal-article","created":{"date-parts":[[2024,12,17]],"date-time":"2024-12-17T00:25:02Z","timestamp":1734395102000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Advancing rare disease measurement through the Rare Disease Clinical Outcome Assessment Consortium"],"prefix":"10.1177","volume":"5","author":[{"given":"Naomi","family":"Knoble","sequence":"first","affiliation":[{"name":"Division of Clinical Outcome Assessment, Office of Drug Evaluation Science, Office of New Drugs, Center for Drug Evaluation and Research, US Food and Drug Administration, Silver Spring, MD, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9168-2179","authenticated-orcid":false,"given":"Lindsey T.","family":"Murray","sequence":"additional","affiliation":[{"name":"Critical Path Institute, 1840 East River Road, Suite 100, Tucson, AZ 85718, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2024,12,16]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/d41573-019-00180-y"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-019-0508-0"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.201910486"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1007\/s43441-020-00255-8"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/psp4.12801"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/cts.12845"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-018-0936-x"},{"key":"e_1_3_4_9_2","doi-asserted-by":"crossref","DOI":"10.1007\/s11606-014-2894-x","article-title":"Rare Diseases Clinical Research Network. The Rare Diseases Clinical Research Network\u2019s organization and approach to observational research and health outcomes research","volume":"29","author":"Krischer JP","year":"2014","unstructured":"Krischer JP, Gopal-Srivastava R, Groft SC, et al. Rare Diseases Clinical Research Network. The Rare Diseases Clinical Research Network\u2019s organization and approach to observational research and health outcomes research. J Gen Intern Med 2014; 29(Suppl. 3): S739\u2013S744.","journal-title":"J Gen Intern Med"},{"key":"e_1_3_4_10_2","doi-asserted-by":"publisher","DOI":"10.1177\/26330040231219272"},{"key":"e_1_3_4_11_2","doi-asserted-by":"publisher","DOI":"10.3233\/TRD-210051"},{"key":"e_1_3_4_12_2","article-title":"The future of rare disease drug development: the rare disease cures accelerator data analytics platform (RDCA-DAP)","volume":"10","author":"Barrett JS","year":"2023","unstructured":"Barrett JS, Betourne A, Walls RL, et al. The future of rare disease drug development: the rare disease cures accelerator data analytics platform (RDCA-DAP). J Pharmacokinet Pharmacodyn 2023; 10.1007\/s10928-023-09859-7.","journal-title":"J Pharmacokinet Pharmacodyn"},{"issue":"6","key":"e_1_3_4_13_2","first-page":"717","article-title":"The RD-connect genome-phenome analysis platform: accelerating diagnosis, research, and gene discovery for rare diseases","volume":"43","author":"Laurie S","year":"2022","unstructured":"Laurie S, Piscia D, Matalonga L, et al. The RD-connect genome-phenome analysis platform: accelerating diagnosis, research, and gene discovery for rare diseases. Hum Mutat 2022; 43(6): 717\u2013733.","journal-title":"Hum Mutat"},{"key":"e_1_3_4_14_2","doi-asserted-by":"publisher","DOI":"10.2217\/pme.11.1"},{"key":"e_1_3_4_15_2","unstructured":"European Medicines Agency. Terms of reference for the EMA\/FDA cluster on rare diseases https:\/\/www.ema.europa.eu\/en\/documents\/other\/terms-reference-european-medicines-agency-ema\/food-drug-administration-fda-cluster-rare-diseases_en.pdf (2016 accessed 11 January 2024)."},{"key":"e_1_3_4_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s43441-022-00409-w"},{"key":"e_1_3_4_17_2","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2018.01085"},{"key":"e_1_3_4_18_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02317-6"},{"key":"e_1_3_4_19_2","unstructured":"European Commission. Evaluation of the medicines for rare diseases and children legislation https:\/\/health.ec.europa.eu\/medicinal-products\/medicines-children\/evaluation-medicines-rare-diseases-and-children-legislation_en (2020 accessed February 22 2024)."},{"key":"e_1_3_4_20_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01901-6"},{"key":"e_1_3_4_21_2","unstructured":"FDA-NIH Biomarker Working Group. BEST (Biomarkers EndpointS and other Tools) Resource https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK326791\/ (2016 accessed 3 May 2024)."},{"key":"e_1_3_4_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jval.2017.05.015"},{"key":"e_1_3_4_23_2","unstructured":"National Organization of Rare Diseases. Barriers to Rare Disease Diagnosis Care and Treatment in the US: A 30-year Comparative Analysis https:\/\/rarediseases.org\/wp-content\/uploads\/2020\/11\/NRD-2088-Barriers-30-Yr-Survey-Report_FNL-2.pdf (2020 accessed 19 July 2024)."},{"key":"e_1_3_4_24_2","doi-asserted-by":"publisher","DOI":"10.1177\/0883073813495959"},{"key":"e_1_3_4_25_2","doi-asserted-by":"publisher","DOI":"10.1177\/2168479016671559"},{"key":"e_1_3_4_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jval.2018.03.004"},{"key":"e_1_3_4_27_2","unstructured":"Food and Drug Administration. Biomarker Qualification Program www.fda.gov\/drugs\/drug-development-tool-ddt-qualification-programs\/biomarker-qualification-program (2016 accessed 3 May 2024)."},{"key":"e_1_3_4_28_2","unstructured":"Food and Drug Administration. Rare diseases: considerations for the development of drugs and biological products guidance for industry https:\/\/www.fda.gov\/media\/119757\/download (2023 accessed 15 January 2024)."},{"key":"e_1_3_4_29_2","unstructured":"Food and Drug Administration. Patient-Focused Drug Development Guidance Series 2018 \u2013 2023 https:\/\/www.fda.gov\/drugs\/development-approval-process-drugs\/fda-patient-focused-drug-development-guidance-series-enhancing-incorporation-patients-voice-medical (accessed 3 May 2024)."},{"key":"e_1_3_4_30_2","volume-title":"Presented virtually at DIA Global Annual Meeting","author":"Murray LT","unstructured":"Murray LT, Brooks T, Howell T, et al. The Rare Disease Clinical Outcome Assessment (COA) Consortium: collaboration aimed at accelerating rare disease drug development. In: Presented virtually at DIA Global Annual Meeting, 27 June\u20141 July 2021."},{"key":"e_1_3_4_31_2","volume-title":"Presented virtually at DIA global annual meeting","author":"Murray LT","unstructured":"Murray LT, Boulanger V, Campbell M, et al. The Rare Disease Clinical Outcome Assessment Consortium: aiming to fulfill unmet drug development endpoint measurement needs. In: Presented virtually at DIA global annual meeting, 14\u201318 June 2020."},{"key":"e_1_3_4_32_2","unstructured":"Food and Drug Administration. COA Compendium Frequently Asked Questions (FAQs) https:\/\/www.fda.gov\/drugs\/development-resources\/coa-compendium-frequently-asked-questions-faqs (2020 accessed 21 November 2024)."},{"key":"e_1_3_4_33_2","unstructured":"Higgins JPT Thomas J Chandler J et al. Cochrane Handbook for Systematic Reviews of Interventions version 6.4 (updated August 2023). Cochrane www.training.cochrane.org\/handbook (2023 accessed 3 May 2024)."},{"key":"e_1_3_4_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jval.2022.11.012"},{"key":"e_1_3_4_35_2","unstructured":"Murray LT Phillips D Shaywitz A et al. COVID-19 Mitigation strategies in pediatric rare disease clinical trials virtual workshop. In: Presented virtually on May 7 2021 https:\/\/c-path.org\/view-now-covid-19-mitigation-strategies-in-pediatric-rare-disease-clinical-trials-virtual-workshop\/ (accessed 3 May 2024)."},{"key":"e_1_3_4_36_2","unstructured":"Murray LT. Understanding the role of patient data in drug development. In: Moderated session presented virtually at the International Pemphigus and Pemphigoid Foundation (IPPF) Conference 27\u201329 October 2023 https:\/\/live.classy.org\/register\/ippf2023\/09681150-42d3-4dd4-857c-eeaa34c66bc6 (accessed 3 May 2024)."},{"key":"e_1_3_4_37_2","volume-title":"Session moderation at the C-Path patient reported outcome consortium Meeting","author":"Murray LT","unstructured":"Murray LT. Strategies for use of COAs in rare disease pediatric populations. In: Session moderation at the C-Path patient reported outcome consortium Meeting, April 20, 2023. Washington, DC."},{"key":"e_1_3_4_38_2","unstructured":"Murray LT Betourne A. Clinical outcome assessments: does one size fit all? In: Presented virtually April 27 2023 https:\/\/www.youtube.com\/watch?v=NCpVUyAzRY0 (accessed 3 May 2024)."},{"key":"e_1_3_4_39_2","volume-title":"Session presented at the NPC biomarker\/endpoint workshop","author":"Murray LT","unstructured":"Murray LT. COA development in Niemann-Pick Type C development. In: Session presented at the NPC biomarker\/endpoint workshop, 21 May 2022, Tucson, AZ."},{"key":"e_1_3_4_40_2","volume-title":"Presented at the 2022 NORD Rare Diseases Breakthrough Summit","author":"Huml R","unstructured":"Huml R, Edwards S, Murray LT, et al. Selecting outcomes that are truly meaningful to patients. In: Presented at the 2022 NORD Rare Diseases Breakthrough Summit, 17\u201318 October\u2013 2022, Washington, DC."},{"key":"e_1_3_4_41_2","unstructured":"Knoble N Rousso D Lou Y et al. Considerations in developing rare disease endpoints: clinical outcome assessment (COA). In: Moderated session presented virtually at the Rare Disease Endpoint Advancement Pilot Program Workshop: Novel Endpoints for Rare Disease Drug Development 7\u20138 June 2023 https:\/\/www.youtube.com\/watch?v=K0vAyFFVnlk (accessed 3 May 2024)."}],"container-title":["Therapeutic Advances in Rare Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/26330040241307962","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/26330040241307962","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/26330040241307962","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T01:10:39Z","timestamp":1777597839000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/26330040241307962"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":40,"alternative-id":["10.1177\/26330040241307962"],"URL":"https:\/\/doi.org\/10.1177\/26330040241307962","relation":{},"ISSN":["2633-0040","2633-0040"],"issn-type":[{"value":"2633-0040","type":"print"},{"value":"2633-0040","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,5]]},"article-number":"26330040241307962"}}