{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,23]],"date-time":"2026-10-23T20:39:21Z","timestamp":1792787961508,"version":"4.5.0"},"reference-count":63,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T00:00:00Z","timestamp":1591747200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T00:00:00Z","timestamp":1591747200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"name":"Metchley Park Medical Society","award":["NA"],"award-info":[{"award-number":["NA"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Health Qual Life Outcomes"],"published-print":{"date-parts":[[2020,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Rare diseases may be life-threatening or chronically debilitating conditions. Patient care needs are often complex and challenging to coordinate and deliver effectively. Rare diseases and their clinical management may therefore substantially impact on patients\u2019 health-related quality of life (HRQOL). The use of patient-reported outcome measures (PROMs) may complement clinical assessments by elucidating patients\u2019 perspectives on their health status and care priorities. This study explored the opinions of patients and clinicians on the use of PROMs in the management of patients with rare diseases in routine clinical practice.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 15 semi-structured one-to-one interviews were conducted with four patients with primary sclerosing cholangitis (PSC); five renal transplant recipients; and six PSC doctors from University Hospitals Birmingham (UHB) NHS Foundation Trust. A focus group session was also conducted with 10 clinical staff members (doctors, nurses and other allied health professionals from UHB). The suitability and acceptability of the Chronic Liver Disease Questionnaire (CLDQ) and the Short Form 12 (SF12) were assessed by patients with PSC and their doctors while the Paediatric quality of life inventory Transplant Module (PedsQL-TM) and the EuroQoL-5 dimensions (EQ. 5D) were evaluated by the renal transplant recipients and their doctors. The discussions were audio recorded and transcribed verbatim. Coding of the transcripts was done using the Nvivo 11 Plus software. Thematic analysis was conducted to identify the main themes and subthemes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Four themes were identified, namely: (i) potential benefits of PROMs in the management of rare diseases; (ii) views on selected questionnaires; (iii) practical considerations for implementation; and (iv) potential facilitators and barriers of implementation. Patients and clinicians suggested that the use of ePROMs may facilitate patient-centred care by promoting patient-clinician communication, highlighting aspects of HRQOL that are important to patients and encouraging patient involvement in their care. They also felt that the disease-specific CLDQ and PedsQL-TM were more relevant than the generic SF12 and EQ-5D.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Patients with rare diseases often experience impaired HRQOL. The use of an ePROM system may enhance the routine management of patients with rare diseases.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12955-020-01438-5","type":"journal-article","created":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T10:02:53Z","timestamp":1591783373000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Patient and clinician opinions of patient reported outcome measures (PROMs) in the management of patients with rare diseases: a qualitative study"],"prefix":"10.1186","volume":"18","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":"Fatima","family":"Isa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Derek","family":"Kyte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanya","family":"Pankhurst","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larissa","family":"Kerecuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Ferguson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graham","family":"Lipkin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Calvert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,10]]},"reference":[{"issue":"1","key":"1438_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1111\/j.1365-2796.2006.01666.x","volume":"260","author":"M Wastfelt","year":"2006","unstructured":"Wastfelt M, Fadeel B, Henter JI. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J Intern Med. 2006;260(1):1\u201310.","journal-title":"J Intern Med"},{"key":"1438_CR2","unstructured":"Rare Disease Europe (EURORDIS). What is rare disease? 2007; Available from: http:\/\/www.eurordis.org\/sites\/default\/files\/publications\/Fact_Sheet_RD.pdf. [cited 2019 11th April]."},{"key":"1438_CR3","doi-asserted-by":"crossref","unstructured":"van Balen EC et al. Patient perspectives on novel treatments in Haemophilia: a qualitative study. The Patient - Patient-Centered Outcomes Research. 2019;13(2):201-10.","DOI":"10.1007\/s40271-019-00395-6"},{"issue":"6","key":"1438_CR4","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1097\/MNH.0000000000000357","volume":"26","author":"OL Aiyegbusi","year":"2017","unstructured":"Aiyegbusi OL, et al. A patient-centred approach to measuring quality in kidney care: patient-reported outcome measures and patient-reported experience measures. Curr Opin Nephrol Hypertens. 2017;26(6):442\u20139.","journal-title":"Curr Opin Nephrol Hypertens"},{"key":"1438_CR5","volume-title":"Guidance for industry. Patient-reported outcome measures: use in medicinal product development to support labeling claims","author":"FDA","year":"2009","unstructured":"FDA. Guidance for industry. Patient-reported outcome measures: use in medicinal product development to support labeling claims. Silver Spring: US Department of Health and Human Services Food and drug administration; 2009."},{"issue":"3","key":"1438_CR6","doi-asserted-by":"publisher","first-page":"255","DOI":"10.1002\/ajmg.c.30217","volume":"151c","author":"DA Stevenson","year":"2009","unstructured":"Stevenson DA, Carey JC. Health-related quality of life measures in genetic disorders: an outcome variable for consideration in clinical trials. Am J Med Genet C Semin Med Genet. 2009;151c(3):255\u201360.","journal-title":"Am J Med Genet C Semin Med Genet"},{"issue":"1","key":"1438_CR7","doi-asserted-by":"publisher","first-page":"160940691770298","DOI":"10.1177\/1609406917702983","volume":"16","author":"KKF Cheng","year":"2017","unstructured":"Cheng KKF, Clark AM. Qualitative methods and patient-reported outcomes: measures development and adaptation. Int J Qual Methods. 2017;16(1):1609406917702983.","journal-title":"Int J Qual Methods"},{"issue":"10","key":"1438_CR8","doi-asserted-by":"publisher","first-page":"e012014","DOI":"10.1136\/bmjopen-2016-012014","volume":"6","author":"OL Aiyegbusi","year":"2016","unstructured":"Aiyegbusi OL, et al. Measurement properties of patient-reported outcome measures (PROMs) used in adult patients with chronic kidney disease: a systematic review protocol. BMJ Open. 2016;6(10):e012014.","journal-title":"BMJ Open"},{"issue":"6","key":"1438_CR9","doi-asserted-by":"publisher","first-page":"e0179733","DOI":"10.1371\/journal.pone.0179733","volume":"12","author":"OL Aiyegbusi","year":"2017","unstructured":"Aiyegbusi OL, et al. Measurement properties of patient-reported outcome measures (PROMs) used in adult patients with chronic kidney disease: a systematic review. PLoS One. 2017;12(6):e0179733.","journal-title":"PLoS One"},{"issue":"4","key":"1438_CR10","doi-asserted-by":"publisher","first-page":"796","DOI":"10.1016\/j.kint.2017.06.018","volume":"92","author":"S Aym\u00e9","year":"2017","unstructured":"Aym\u00e9 S, et al. Common elements in rare kidney diseases: conclusions from a kidney disease: improving global outcomes (KDIGO) controversies conference. Kidney Int. 2017;92(4):796\u2013808.","journal-title":"Kidney Int"},{"issue":"1","key":"1438_CR11","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1186\/s13023-015-0307-9","volume":"10","author":"C Cohen","year":"2015","unstructured":"Cohen C, et al. Excellent long-term outcome of renal transplantation in cystinosis patients. Orphanet J Rare Dis. 2015;10(1):90.","journal-title":"Orphanet J Rare Dis"},{"key":"1438_CR12","unstructured":"NHS Blood and Transplant, Annual Report on Kidney Transplantation. 2015. Available from:\u00a0http:\/\/odt.nhs.uk\/pdf\/organ_specific_report_kidney_2015.pdf. [cited: 2019 12th October]."},{"key":"1438_CR13","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1186\/s40697-015-0081-6","volume":"2","author":"RF McQuillan","year":"2015","unstructured":"McQuillan RF, et al. Benefits of a transfer clinic in adolescent and young adult kidney transplant patients. Can J Kidney Health Dis. 2015;2:45.","journal-title":"Can J Kidney Health Dis"},{"issue":"5","key":"1438_CR14","doi-asserted-by":"publisher","first-page":"603","DOI":"10.1111\/j.1399-3046.2010.01299.x","volume":"14","author":"F Dobbels","year":"2010","unstructured":"Dobbels F, et al. Adherence to the immunosuppressive regimen in pediatric kidney transplant recipients: a systematic review. Pediatr Transplant. 2010;14(5):603\u201313.","journal-title":"Pediatr Transplant"},{"issue":"7","key":"1438_CR15","doi-asserted-by":"publisher","first-page":"750","DOI":"10.1111\/j.1399-3046.2011.01567.x","volume":"15","author":"BJ Foster","year":"2011","unstructured":"Foster BJ, et al. The impact of age at transfer from pediatric to adult-oriented care on renal allograft survival. Pediatr Transplant. 2011;15(7):750\u20139.","journal-title":"Pediatr Transplant"},{"issue":"4","key":"1438_CR16","doi-asserted-by":"publisher","first-page":"428","DOI":"10.1111\/petr.12480","volume":"19","author":"KA Loiselle","year":"2015","unstructured":"Loiselle KA, et al. Longitudinal stability of medication adherence among adolescent solid organ transplant recipients. Pediatr Transplant. 2015;19(4):428\u201335.","journal-title":"Pediatr Transplant"},{"issue":"1","key":"1438_CR17","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1093\/bmb\/ldv019","volume":"114","author":"KD Williamson","year":"2015","unstructured":"Williamson KD, Chapman RW. Primary sclerosing cholangitis: a clinical update. Br Med Bull. 2015;114(1):53\u201364.","journal-title":"Br Med Bull"},{"issue":"8","key":"1438_CR18","doi-asserted-by":"publisher","first-page":"1677","DOI":"10.1111\/j.1572-0241.2007.01220.x","volume":"102","author":"E Bjornsson","year":"2007","unstructured":"Bjornsson E, Angulo P. Cholangiocarcinoma in young individuals with and without primary sclerosing cholangitis. Am J Gastroenterol. 2007;102(8):1677\u201382.","journal-title":"Am J Gastroenterol"},{"issue":"7","key":"1438_CR19","first-page":"453","volume":"9","author":"C Ponsioen","year":"2013","unstructured":"Ponsioen C. Diagnosis, prognosis, and Management of Primary Sclerosing Cholangitis. Gastroenterol Hepatol. 2013;9(7):453\u201365.","journal-title":"Gastroenterol Hepatol"},{"issue":"12","key":"1438_CR20","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1097\/MEG.0000000000000223","volume":"26","author":"DN Gotthardt","year":"2014","unstructured":"Gotthardt DN, et al. Pruritus is associated with severely impaired quality of life in patients with primary sclerosing cholangitis. Eur J Gastroenterol Hepatol. 2014;26(12):1374\u20139.","journal-title":"Eur J Gastroenterol Hepatol"},{"key":"1438_CR21","doi-asserted-by":"publisher","unstructured":"Eaton JE, et al. Pathogenesis of Primary Sclerosing Cholangitis and Advances in Diagnosis and Management. Gastroenterology. 2013;145(3). https:\/\/doi.org\/10.1053\/j.gastro.2013.06.052.","DOI":"10.1053\/j.gastro.2013.06.052"},{"issue":"1","key":"1438_CR22","doi-asserted-by":"publisher","first-page":"1","DOI":"10.3748\/wjg.v18.i1.1","volume":"18","author":"B Fosby","year":"2012","unstructured":"Fosby B, Karlsen TH, Melum E. Recurrence and rejection in liver transplantation for primary sclerosing cholangitis. World J Gastroenterol. 2012;18(1):1\u201315.","journal-title":"World J Gastroenterol"},{"issue":"6","key":"1438_CR23","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1093\/intqhc\/mzm042","volume":"19","author":"A Tong","year":"2007","unstructured":"Tong A, Sainsbury P, Craig J. Consolidated criteria for reporting qualitative research (COREQ): a 32-item checklist for interviews and focus groups. Int J Qual Health Care. 2007;19(6):349\u201357.","journal-title":"Int J Qual Health Care"},{"key":"1438_CR24","unstructured":"UoB. Centre for Rare Disease Studies (CRDS) Birmingham. 12\/06\/2018]; Available from: https:\/\/www.birmingham.ac.uk\/research\/activity\/mds\/centres\/rare-diseases\/index.aspx."},{"key":"1438_CR25","volume-title":"When to use focus groups and why\u2019 in Successful Focus Groups","author":"DL Morgan","year":"1993","unstructured":"Morgan DL, Kreuger RA. In: Morgan DL, editor. When to use focus groups and why\u2019 in Successful Focus Groups. London: Sage; 1993."},{"issue":"8","key":"1438_CR26","doi-asserted-by":"publisher","DOI":"10.1136\/bmjopen-2017-017544","volume":"7","author":"C McMullan","year":"2017","unstructured":"McMullan C, et al. Adapting to ulcerative colitis to try to live a 'normal' life: a qualitative study of patients' experiences in the midlands region of England. BMJ Open. 2017;7(8):e017544.","journal-title":"BMJ Open"},{"issue":"2","key":"1438_CR27","doi-asserted-by":"publisher","first-page":"295","DOI":"10.1136\/gut.45.2.295","volume":"45","author":"ZM Younossi","year":"1999","unstructured":"Younossi ZM, et al. Development of a disease specific questionnaire to measure health related quality of life in patients with chronic liver disease. Gut. 1999;45(2):295\u2013300.","journal-title":"Gut"},{"issue":"2","key":"1438_CR28","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1093\/oxfordjournals.pubmed.a024606","volume":"19","author":"C Jenkinson","year":"1997","unstructured":"Jenkinson C, et al. A shorter form health survey: can the SF-12 replicate results from the SF-36 in longitudinal studies? J Public Health Med. 1997;19(2):179\u201386.","journal-title":"J Public Health Med"},{"issue":"2","key":"1438_CR29","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1097\/00005650-199902000-00003","volume":"37","author":"JW Varni","year":"1999","unstructured":"Varni JW, Seid M, Rode CA. The PedsQL: measurement model for the pediatric quality of life inventory. Med Care. 1999;37(2):126\u201339.","journal-title":"Med Care"},{"issue":"10","key":"1438_CR30","doi-asserted-by":"publisher","first-page":"1727","DOI":"10.1007\/s11136-011-9903-x","volume":"20","author":"M Herdman","year":"2011","unstructured":"Herdman M, et al. Development and preliminary testing of the new five-level version of EQ-5D (EQ-5D-5L). Qual Life Res. 2011;20(10):1727\u201336.","journal-title":"Qual Life Res"},{"issue":"3","key":"1438_CR31","doi-asserted-by":"publisher","first-page":"220","DOI":"10.1097\/00005650-199603000-00003","volume":"34","author":"J Ware Jr","year":"1996","unstructured":"Ware J Jr, Kosinski M, Keller SD. A 12-Item Short-Form Health Survey: construction of scales and preliminary tests of reliability and validity. Med Care. 1996;34(3):220\u201333.","journal-title":"Med Care"},{"issue":"6","key":"1438_CR32","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1097\/00005650-199206000-00002","volume":"30","author":"JE Ware Jr","year":"1992","unstructured":"Ware, J.E., Jr. And C.D. Sherbourne, The MOS 36-item short-form health survey (SF-36). I. Conceptual framework and item selection. Med Care, 1992. 30(6): p. 473\u2013483.","journal-title":"Med Care"},{"issue":"4","key":"1438_CR33","doi-asserted-by":"publisher","first-page":"421","DOI":"10.2165\/00019053-199813040-00005","volume":"13","author":"JA Johnson","year":"1998","unstructured":"Johnson JA, et al. Valuation of EuroQOL (EQ-5D) health states in an adult US sample. Pharmacoeconomics. 1998;13(4):421\u201333.","journal-title":"Pharmacoeconomics"},{"issue":"7","key":"1438_CR34","doi-asserted-by":"publisher","first-page":"1677","DOI":"10.1111\/j.1600-6143.2010.03149.x","volume":"10","author":"J Weissberg-Benchell","year":"2010","unstructured":"Weissberg-Benchell J, et al. Pediatric health-related quality of life: feasibility, reliability and validity of the PedsQL\u2122 transplant module. Am J Transplant. 2010;10(7):1677\u201385.","journal-title":"Am J Transplant"},{"issue":"8","key":"1438_CR35","doi-asserted-by":"publisher","first-page":"800","DOI":"10.1097\/00005650-200108000-00006","volume":"39","author":"JW Varni","year":"2001","unstructured":"Varni JW, Seid M, Kurtin PS. PedsQL 4.0: reliability and validity of the pediatric quality of life inventory version 4.0 generic core scales in healthy and patient populations. Med Care. 2001;39(8):800\u201312.","journal-title":"Med Care"},{"key":"1438_CR36","unstructured":"Green J, Thorogood N. Qualitative Methods for Health Research. London: SAGE Publications; 2009."},{"issue":"2","key":"1438_CR37","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1191\/1478088706qp063oa","volume":"3","author":"V Braun","year":"2006","unstructured":"Braun V, Clarke V. Using thematic analysis in psychology. Qual Res Psychol. 2006;3(2):77\u2013101.","journal-title":"Qual Res Psychol"},{"issue":"6","key":"1438_CR38","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1111\/j.1753-6405.2007.00141.x","volume":"31","author":"J Green","year":"2007","unstructured":"Green J, et al. Generating best evidence from qualitative research: the role of data analysis. Aust N Z J Public Health. 2007;31(6):545\u201350.","journal-title":"Aust N Z J Public Health"},{"key":"1438_CR39","doi-asserted-by":"publisher","first-page":"152","DOI":"10.1186\/1477-7525-11-152","volume":"11","author":"H Johansen","year":"2013","unstructured":"Johansen H, et al. Health-related quality of life for children with rare diagnoses, their parents' satisfaction with life and the association between the two. Health Qual Life Outcomes. 2013;11:152.","journal-title":"Health Qual Life Outcomes"},{"key":"1438_CR40","unstructured":"QEHB. myhealth@QEHB. 25\/03\/2020]; Available from: https:\/\/www.uhb.nhs.uk\/myhealth-at-QEHB.htm."},{"issue":"2","key":"1438_CR41","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s11136-007-9295-0","volume":"17","author":"JM Valderas","year":"2008","unstructured":"Valderas JM, et al. The impact of measuring patient-reported outcomes in clinical practice: a systematic review of the literature. Qual Life Res. 2008;17(2):179\u201393.","journal-title":"Qual Life Res"},{"issue":"4","key":"1438_CR42","doi-asserted-by":"publisher","first-page":"401","DOI":"10.1046\/j.1365-2753.1999.00209.x","volume":"5","author":"J Greenhalgh","year":"1999","unstructured":"Greenhalgh J, Meadows K. The effectiveness of the use of patient-based measures of health in routine practice in improving the process and outcomes of patient care: a literature review. J Eval Clin Pract. 1999;5(4):401\u201316.","journal-title":"J Eval Clin Pract"},{"issue":"8","key":"1438_CR43","doi-asserted-by":"publisher","first-page":"826","DOI":"10.1097\/MLR.0b013e31819a5acc","volume":"47","author":"KB Haskard Zolnierek","year":"2009","unstructured":"Haskard Zolnierek, K.B. And M.R. DiMatteo, Physician Communication and Patient Adherence to Treatment: A Meta-analysis. Med Care, 2009. 47(8): p. 826\u2013834.","journal-title":"Med Care"},{"issue":"8","key":"1438_CR44","doi-asserted-by":"publisher","first-page":"1305","DOI":"10.1007\/s11136-011-0054-x","volume":"21","author":"CF Snyder","year":"2012","unstructured":"Snyder CF, et al. Implementing patient-reported outcomes assessment in clinical practice: a review of the options and considerations. Qual Life Res. 2012;21(8):1305\u201314.","journal-title":"Qual Life Res"},{"issue":"6","key":"1438_CR45","doi-asserted-by":"publisher","first-page":"557","DOI":"10.1200\/JCO.2015.63.0830","volume":"34","author":"E Basch","year":"2016","unstructured":"Basch E, et al. Symptom monitoring with patient-reported outcomes during routine Cancer treatment: a randomized controlled trial. J Clin Oncol. 2016;34(6):557\u201365.","journal-title":"J Clin Oncol"},{"key":"1438_CR46","doi-asserted-by":"crossref","unstructured":"Aiyegbusi OL, et al. Patient and clinician perspectives on electronic patient-reported outcome measures in the Management of Advanced CKD: a qualitative study. Am J Kidney Dis. 2019;74(2):167-78.","DOI":"10.1053\/j.ajkd.2019.02.011"},{"key":"1438_CR47","doi-asserted-by":"crossref","unstructured":"Greenhalgh T, et al. Virtual online consultations: advantages and limitations (VOCAL) study. BMJ Open. 2016;6(1):e009388.","DOI":"10.1136\/bmjopen-2015-009388"},{"issue":"1","key":"1438_CR48","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0189174","volume":"13","author":"G Jones","year":"2018","unstructured":"Jones G, et al. Evaluating the impact of a \u2018virtual clinic\u2019 on patient experience, personal and provider costs of care in urinary incontinence: a randomised controlled trial. PLoS One. 2018;13(1):e0189174.","journal-title":"PLoS One"},{"key":"1438_CR49","doi-asserted-by":"crossref","unstructured":"Kotecha A, et al. Qualitative investigation of patients\u2019 experience of a glaucoma virtual clinic in a specialist ophthalmic hospital in London, UK. BMJ Open. 2015;5(12):e009463.","DOI":"10.1136\/bmjopen-2015-009463"},{"issue":"3","key":"1438_CR50","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1017\/S0266462316000271","volume":"32","author":"A Ruther","year":"2016","unstructured":"Ruther A, et al. Aspects of patient reported outcomes in rare diseases: a discussion paper. Int J Technol Assess Health Care. 2016;32(3):126\u201330.","journal-title":"Int J Technol Assess Health Care"},{"issue":"1","key":"1438_CR51","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1186\/s13023-018-0810-x","volume":"13","author":"A Slade","year":"2018","unstructured":"Slade A, et al. Patient reported outcome measures in rare diseases: a narrative review. Orphanet J Rare Dis. 2018;13(1):61.","journal-title":"Orphanet J Rare Dis"},{"key":"1438_CR52","doi-asserted-by":"crossref","unstructured":"Benito de Valle, M., et al., Factors that reduce health-related quality of life in patients with primary sclerosing cholangitis. Clin Gastroenterol Hepatol, 2012. 10(7): p. 769\u2013775.e2.","DOI":"10.1016\/j.cgh.2012.01.025"},{"key":"1438_CR53","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1111\/j.1572-0241.2001.03537.x","volume":"96","author":"ZM Younossi","year":"2001","unstructured":"Younossi ZM, et al. Assessment of utilities and health-related quality of life in patients with chronic liver disease. Am J Gastroenterol. 2001;96:579.","journal-title":"Am J Gastroenterol"},{"issue":"2","key":"1438_CR54","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1111\/j.1572-0241.2000.01774.x","volume":"95","author":"ZM Younossi","year":"2000","unstructured":"Younossi ZM, et al. Cholestatic liver diseases and health-related quality of life. Am J Gastroenterol. 2000;95(2):497\u2013502.","journal-title":"Am J Gastroenterol"},{"issue":"1","key":"1438_CR55","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1002\/hep.29664","volume":"68","author":"ZM Younossi","year":"2018","unstructured":"Younossi ZM, et al. Development and validation of a primary sclerosing cholangitis-specific patient-reported outcomes instrument: the PSC PRO. Hepatology. 2018;68(1):155\u201365.","journal-title":"Hepatology"},{"issue":"1","key":"1438_CR56","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1186\/s12955-018-0951-6","volume":"16","author":"F Isa","year":"2018","unstructured":"Isa F, et al. Patient-reported outcome measures used in patients with primary sclerosing cholangitis: a systematic review. Health Qual Life Outcomes. 2018;16(1):133.","journal-title":"Health Qual Life Outcomes"},{"key":"1438_CR57","doi-asserted-by":"publisher","first-page":"62","DOI":"10.1186\/s12874-015-0053-7","volume":"15","author":"M Li","year":"2015","unstructured":"Li M, Harris I, Lu ZK. Differences in proxy-reported and patient-reported outcomes: assessing health and functional status among medicare beneficiaries. BMC Med Res Methodol. 2015;15:62.","journal-title":"BMC Med Res Methodol"},{"key":"1438_CR58","volume-title":"Appendix 2 to the Guideline on the Evaluation of Anticancer Medicinal Products in Man: The Use of Patient-Reported Outcome (PRO) Measures in Oncology Studies","author":"EMA","year":"2016","unstructured":"EMA. Appendix 2 to the Guideline on the Evaluation of Anticancer Medicinal Products in Man: The Use of Patient-Reported Outcome (PRO) Measures in Oncology Studies. London: European medicines Agency Committee for Medicinal Products for human use; 2016."},{"issue":"4","key":"1438_CR59","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1093\/jamia\/ocy169","volume":"26","author":"AE Chung","year":"2019","unstructured":"Chung AE, et al. Patient free text reporting of symptomatic adverse events in cancer clinical research using the National Cancer Institute\u2019s patient-reported outcomes version of the common terminology criteria for adverse events (PRO-CTCAE). J Am Med Inform Assoc. 2019;26(4):276\u201385.","journal-title":"J Am Med Inform Assoc"},{"key":"1438_CR60","doi-asserted-by":"crossref","unstructured":"Philpot LM, et al. Barriers and Benefits to the Use of Patient-Reported Outcome Measures in Routine Clinical Care: A Qualitative Study. Am J Med Qual. 2017:1062860617745986.","DOI":"10.1177\/1062860617745986"},{"issue":"1","key":"1438_CR61","doi-asserted-by":"publisher","first-page":"31","DOI":"10.1186\/s13023-019-1002-z","volume":"14","author":"CMW Gaasterland","year":"2019","unstructured":"Gaasterland CMW, et al. The patient's view on rare disease trial design - a qualitative study. Orphanet J Rare Dis. 2019;14(1):31.","journal-title":"Orphanet J Rare Dis"},{"issue":"1","key":"1438_CR62","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1186\/s13023-017-0706-1","volume":"12","author":"S Neelamekam","year":"2017","unstructured":"Neelamekam S, et al. The impact of lipoprotein lipase deficiency on health-related quality of life: a detailed, structured, qualitative study. Orphanet J Rare Dis. 2017;12(1):156.","journal-title":"Orphanet J Rare Dis"},{"issue":"7460","key":"1438_CR63","doi-asserted-by":"publisher","first-page":"288","DOI":"10.1136\/bmj.329.7460.288","volume":"329","author":"M Parker","year":"2004","unstructured":"Parker M, et al. Ethical review of research into rare genetic disorders. Bmj. 2004;329(7460):288\u20139.","journal-title":"Bmj"}],"container-title":["Health and Quality of Life Outcomes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12955-020-01438-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12955-020-01438-5\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12955-020-01438-5.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T03:56:08Z","timestamp":1625111768000},"score":1,"resource":{"primary":{"URL":"https:\/\/hqlo.biomedcentral.com\/articles\/10.1186\/s12955-020-01438-5"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,10]]},"references-count":63,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2020,12]]}},"alternative-id":["1438"],"URL":"https:\/\/doi.org\/10.1186\/s12955-020-01438-5","relation":{},"ISSN":["1477-7525"],"issn-type":[{"value":"1477-7525","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,10]]},"assertion":[{"value":"8 November 2019","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 June 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 June 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The study was approved by the National Research Ethics Service (NRES), West Midlands, Birmingham (Reference number: 16\/WM\/0198) and by the University Hospitals Birmingham (UHB) NHS Trust Research and Development Department (Reference number: RRK5790).","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"All participants provided written informed consent.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"MC has received personal fees from Astellas, Takeda, Glaukos and Merck outside the submitted work and grants from the NIHR, Health Data Research UK and Innovate UK, part of UK Research and Innovation. OLA reports personal fees from Gilead Sciences Ltd. DK is supported by the NIHR postdoctoral fellowship scheme (PDF-2016-09-009). DK reports grants from Macmillan Cancer Support, Innovate UK, the National Institute for Health Research (NIHR), NIHR Birmingham Biomedical Research Centre and NIHR Surgical Reconstruction and Microbiology Research Centre (SRMRC) at the University of Birmingham and University Hospitals Birmingham NHS Foundation Trust and personal fees from Merck outside the submitted work.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"177"}}