{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,2]],"date-time":"2026-11-02T22:32:23Z","timestamp":1793658743722,"version":"4.5.1"},"reference-count":51,"publisher":"BMJ","issue":"1","license":[{"start":{"date-parts":[[2025,12,12]],"date-time":"2025-12-12T00:00:00Z","timestamp":1765497600000},"content-version":"unspecified","delay-in-days":11,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Foundation Johanna D\u00fcrm\u00fcller-Bol","award":["Proj.Nr. 565"],"award-info":[{"award-number":["Proj.Nr. 565"]}]},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["10001934"],"award-info":[{"award-number":["10001934"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001711","name":"Schweizerischer Nationalfonds zur F\u00f6rderung der Wissenschaftlichen Forschung","doi-asserted-by":"publisher","award":["PZ00P3_185923"],"award-info":[{"award-number":["PZ00P3_185923"]}],"id":[{"id":"10.13039\/501100001711","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Open Resp Res"],"accepted":{"date-parts":[[2025,11,22]]},"published-print":{"date-parts":[[2025,12]]},"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>People living with chronic diseases can provide a unique perspective for research that often differs from that of healthcare professionals. This is particularly important in rare diseases like primary ciliary dyskinesia (PCD), with many knowledge gaps and limited research resources. We aimed to assess participation of patients and caregivers in PCD research and identify their research priorities in a mixed-method study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We conducted in-depth, semistructured interviews with adults and adolescents with PCD, and caregivers of children with PCD. After verbatim transcription and thematic analysis, we developed an anonymous online survey, translated it into eight languages and circulated it widely in collaboration with PCD support groups worldwide and the European Lung Foundation.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The findings from the interviews identified key areas to be explored further through the survey including: developing treatments for PCD and increasing knowledge about different topics such as mental health, fertility, upper airway problems, treatment burden and impact of environment and lifestyle. 399 participants completed the online survey from 29 countries with median age 41 (IQR 33\u201349), 74% were female. 180 participants (45%) had participated in research before. For the remaining, the main reason for no participation was not being informed about studies (65%). 172 (43%) preferred regular research updates during a study. The top three ranked research priorities were (1) finding a cure to restore ciliary function; (2) developing treatments to improve lung function and reduce infections and mucus production; (3) finding the best way to manage the disease using existing medication. Other priorities were: involving more doctors and people with PCD in research, raising awareness of the condition and increasing knowledge about mental health and fertility.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>We found that people with PCD are motivated to participate in research when they are informed appropriately and invited. Their main research priorities relate to developing new treatments or improving the evidence base for existing treatments. Our findings will help the PCD research community to improve patient engagement in research and to draw common priorities together with the people who live with PCD and their families.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/bmjresp-2025-003364","type":"journal-article","created":{"date-parts":[[2025,12,15]],"date-time":"2025-12-15T07:20:19Z","timestamp":1765783219000},"page":"e003364","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":4,"title":["Patients\u2019 research priorities and participation in primary ciliary dyskinesia research"],"prefix":"10.1136","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2380-834X","authenticated-orcid":false,"given":"Yin Ting","family":"Lam","sequence":"first","affiliation":[{"name":"Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland"},{"name":"Division of Respiratory Medicine, University Children's Hospital Zurich, Zurich, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0748-6141","authenticated-orcid":false,"given":"Laura","family":"Behan","sequence":"additional","affiliation":[{"name":"School of Clinical and Experimental Medicine, Faculty of Medicine, University of Southampton, Southampton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0140-3744","authenticated-orcid":false,"given":"Katie","family":"Dexter","sequence":"additional","affiliation":[{"name":"PCD Support UK, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-8132-2119","authenticated-orcid":false,"given":"Lucy","family":"Dixon","sequence":"additional","affiliation":[{"name":"PCD Support UK, London, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8957-2002","authenticated-orcid":false,"given":"Claudia E","family":"Kuehni","sequence":"additional","affiliation":[{"name":"Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland"},{"name":"Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, University Hospital, University of Bern, Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6180-692X","authenticated-orcid":false,"given":"Leonie Daria","family":"Schreck","sequence":"additional","affiliation":[{"name":"Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8701-9975","authenticated-orcid":false,"given":"Jane S","family":"Lucas","sequence":"additional","affiliation":[{"name":"School of Clinical and Experimental Medicine, Faculty of Medicine, University of Southampton, Southampton, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8036-2092","authenticated-orcid":false,"given":"Myrofora","family":"Goutaki","sequence":"additional","affiliation":[{"name":"Institute of Social and Preventive Medicine, University of Bern, Bern, Switzerland"},{"name":"Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, Inselspital, University Hospital, University of Bern, Bern, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2025,12,14]]},"reference":[{"key":"2026010701522309000_12.1.e003364.1","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00736-2016"},{"key":"2026010701522309000_12.1.e003364.2","doi-asserted-by":"crossref","DOI":"10.1093\/hropen\/hoae039","article-title":"Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia","volume":"2024","author":"Schreck","year":"2024","journal-title":"Hum Reprod Open"},{"key":"2026010701522309000_12.1.e003364.3","doi-asserted-by":"crossref","first-page":"00701","DOI":"10.1183\/23120541.00701-2022","article-title":"Sinonasal disease among patients with primary ciliary dyskinesia: an international study","volume":"9","author":"Lam","year":"2023","journal-title":"ERJ Open Res"},{"key":"2026010701522309000_12.1.e003364.4","doi-asserted-by":"crossref","first-page":"587","DOI":"10.1001\/jamaoto.2023.0841","article-title":"Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia","volume":"149","author":"Goutaki","year":"2023","journal-title":"JAMA Otolaryngol Head Neck Surg"},{"key":"2026010701522309000_12.1.e003364.5","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.01040-2018","article-title":"Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study","volume":"52","author":"Halbeisen","year":"2018","journal-title":"Eur Respir J"},{"key":"2026010701522309000_12.1.e003364.6","doi-asserted-by":"publisher","DOI":"10.1378\/chest.13-1704"},{"key":"2026010701522309000_12.1.e003364.7","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050843"},{"key":"2026010701522309000_12.1.e003364.8","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.20792"},{"key":"2026010701522309000_12.1.e003364.9","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2014-206578"},{"key":"2026010701522309000_12.1.e003364.10","doi-asserted-by":"publisher","DOI":"10.1513\/AnnalsATS.201712-967OC"},{"key":"2026010701522309000_12.1.e003364.11","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201803-0548OC"},{"key":"2026010701522309000_12.1.e003364.12","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00231-2018","article-title":"Spirometric indices in primary ciliary dyskinesia: systematic review and meta-analysis","volume":"5","author":"Halbeisen","year":"2019","journal-title":"ERJ Open Res"},{"key":"2026010701522309000_12.1.e003364.13","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01090-2016"},{"key":"2026010701522309000_12.1.e003364.14","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201607-1351oc"},{"key":"2026010701522309000_12.1.e003364.15","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1080\/01913123.2017.1365789","article-title":"Applications of emerging transmission electron microscopy technology in PCD research and diagnosis","volume":"41","author":"Shoemark","year":"2017","journal-title":"Ultrastruct Pathol"},{"key":"2026010701522309000_12.1.e003364.16","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.02031-2022","article-title":"Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard","volume":"61","author":"Beydon","year":"2023","journal-title":"Eur Respir J"},{"key":"2026010701522309000_12.1.e003364.17","doi-asserted-by":"crossref","first-page":"S788","DOI":"10.1007\/s11606-014-2895-9","article-title":"A systematic review of approaches for engaging patients for research on rare diseases","volume":"29 Suppl 3","author":"Forsythe","year":"2014","journal-title":"J Gen Intern Med"},{"key":"2026010701522309000_12.1.e003364.18","doi-asserted-by":"crossref","first-page":"1923","DOI":"10.1016\/S0140-6736(04)17494-1","article-title":"The James Lind Alliance: patients and clinicians should jointly identify their priorities for clinical trials","volume":"364","author":"Partridge","year":"2004","journal-title":"The Lancet"},{"key":"2026010701522309000_12.1.e003364.19","doi-asserted-by":"crossref","DOI":"10.1136\/bmjopen-2018-027473","article-title":"The James Lind Alliance process approach: scoping review","volume":"9","author":"Nygaard","year":"2019","journal-title":"BMJ Open"},{"key":"2026010701522309000_12.1.e003364.20","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01888-2015"},{"key":"2026010701522309000_12.1.e003364.21","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00523-2020","article-title":"Research priorities in \u03b11-antitrypsin deficiency: results of a patients\u2019 and healthcare providers\u2019 international survey from the EARCO Clinical Research Collaboration","volume":"6","author":"Barrecheguren","year":"2020","journal-title":"ERJ Open Res"},{"key":"2026010701522309000_12.1.e003364.22","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.04601-2020"},{"key":"2026010701522309000_12.1.e003364.23","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00026-2024","article-title":"Priorities and barriers for research related to primary ciliary dyskinesia","volume":"10","author":"Goutaki","year":"2024","journal-title":"ERJ Open Res"},{"key":"2026010701522309000_12.1.e003364.24","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-020-01641-z","article-title":"Research priorities for rare neurological diseases: a representative view of patient representatives and healthcare professionals from the European Reference Network for Rare Neurological Diseases","volume":"16","author":"Post","year":"2021","journal-title":"Orphanet J Rare Dis"},{"key":"2026010701522309000_12.1.e003364.25","doi-asserted-by":"crossref","DOI":"10.1186\/s12874-019-0665-4","article-title":"Purposive sampling in a qualitative evidence synthesis: a worked example from a synthesis on parental perceptions of vaccination communication","volume":"19","author":"Ames","year":"2019","journal-title":"BMC Med Res Methodol"},{"key":"2026010701522309000_12.1.e003364.26","doi-asserted-by":"crossref","unstructured":"Olmos-Vega FM , Stalmeijer RE , Varpio L , et al . A practical guide to reflexivity in qualitative research: AMEE Guide No. 149. Med Teach 2022;1\u201311. doi:10.1080\/0142159X.2022.2057287","DOI":"10.1080\/0142159X.2022.2057287"},{"key":"2026010701522309000_12.1.e003364.27","doi-asserted-by":"crossref","first-page":"100051","DOI":"10.1016\/j.glmedi.2024.100051","article-title":"The pillars of trustworthiness in qualitative research","volume":"2","author":"Ahmed","year":"2024","journal-title":"Journal of Medicine, Surgery, and Public Health"},{"key":"2026010701522309000_12.1.e003364.28","doi-asserted-by":"publisher","DOI":"10.1177\/1049732315617444"},{"key":"2026010701522309000_12.1.e003364.29","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1177\/160940690600500107","article-title":"Demonstrating Rigor Using Thematic Analysis: A Hybrid Approach of Inductive and Deductive Coding and Theme Development","volume":"5","author":"Fereday","year":"2006","journal-title":"Int J Qual Methods"},{"key":"2026010701522309000_12.1.e003364.30","doi-asserted-by":"publisher","DOI":"10.1191\/1478088706qp063oa"},{"key":"2026010701522309000_12.1.e003364.31","doi-asserted-by":"publisher","DOI":"10.1093\/intqhc\/mzm042"},{"key":"2026010701522309000_12.1.e003364.32","unstructured":"Hall J . Cross-Sectional Survey Design. Sage Publications, Inc, 2008:173.Available: https:\/\/methods.sagepub.com\/ency\/edvol\/encyclopedia-of-survey-research-methods\/chpt\/crosssectional-survey-design"},{"key":"2026010701522309000_12.1.e003364.33","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbi.2008.08.010"},{"key":"2026010701522309000_12.1.e003364.34","doi-asserted-by":"crossref","unstructured":"Voorhees EM , Tice DM . The trec-8 question answering track evaluation. NIST; 2000. Available: https:\/\/www.nist.gov\/publications\/trec-8-question-answering-track-evaluation","DOI":"10.6028\/NIST.SP.500-246.qa-overview"},{"key":"2026010701522309000_12.1.e003364.35","doi-asserted-by":"publisher","DOI":"10.1016\/j.jclinepi.2007.11.008"},{"key":"2026010701522309000_12.1.e003364.36","unstructured":"Smith G . Does gender influence online survey participation? A record-linkage analysis of university faculty online survey response behavior. ERIC document reproduction service no.ed 501717. 2008. Available: https:\/\/www.semanticscholar.org\/paper\/Does-Gender-Influence-Online-Survey-Participation-A-Smith\/c3fde41dbd2983ea162290638f07fa9ec4880096"},{"key":"2026010701522309000_12.1.e003364.37","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00843-2020","article-title":"COVID-PCD: a participatory research study on the impact of COVID-19 in people with primary ciliary dyskinesia","volume":"7","author":"Pedersen","year":"2021","journal-title":"ERJ Open Res"},{"key":"2026010701522309000_12.1.e003364.38","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1093\/abm\/kaad027","article-title":"The Importance of Lay Summaries for Improving Science Communication","volume":"57","author":"Goldstein","year":"2023","journal-title":"Ann Behav Med"},{"key":"2026010701522309000_12.1.e003364.39","doi-asserted-by":"crossref","first-page":"772","DOI":"10.1177\/1077699014550092","article-title":"Building Buzz: (Scientists) Communicating Science in New Media Environments","volume":"91","author":"Liang","year":"2014","journal-title":"Journal Mass Commun Q"},{"key":"2026010701522309000_12.1.e003364.40","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pone.0279354","article-title":"Reflections on contributing to health research: A qualitative interview study with research participants and patient advisors","volume":"17","author":"Newington","year":"2022","journal-title":"PLoS One"},{"key":"2026010701522309000_12.1.e003364.41","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1016\/S2213-2600(20)30058-8","article-title":"Efficacy and safety of azithromycin maintenance therapy in primary ciliary dyskinesia (BESTCILIA): a multicentre, double-blind, randomised, placebo-controlled phase 3 trial","volume":"8","author":"Kobbernagel","year":"2020","journal-title":"Lancet Respir Med"},{"key":"2026010701522309000_12.1.e003364.42","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00139-2022","article-title":"The disease-specific clinical trial network for primary ciliary dyskinesia: PCD-CTN","volume":"8","author":"Raidt","year":"2022","journal-title":"ERJ Open Res"},{"key":"2026010701522309000_12.1.e003364.43","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/S2213-2600(23)00226-6","article-title":"Safety and efficacy of the epithelial sodium channel blocker idrevloride in people with primary ciliary dyskinesia (CLEAN-PCD): a multinational, phase 2, randomised, double-blind, placebo-controlled crossover trial","volume":"12","author":"Ringshausen","year":"2024","journal-title":"Lancet Respir Med"},{"key":"2026010701522309000_12.1.e003364.44","doi-asserted-by":"crossref","unstructured":"Bhattacharjee R , Hennig M , Ishimaru D , et al . Rescue of Ciliary Function in Cell-Based PrimaryCiliary Dyskinesia Models Using Nebulized, Lipid Nanoparticle (LNP)-Formulated mRNA. American Thoracic Society 2022. doi:10.1164\/ajrccm-conference.2022.205.1_MeetingAbstracts.A1998","DOI":"10.1164\/ajrccm-conference.2022.205.1_MeetingAbstracts.A1998"},{"key":"2026010701522309000_12.1.e003364.45","article-title":"An mRNA-Based Therapy to Treat Primary CiliaryDyskinesia: Aerosol Delivery, Biodistribution and Tolerability","volume":"205","author":"Liston","year":"2022","journal-title":"Am J Respir Crit Care Med"},{"key":"2026010701522309000_12.1.e003364.46","doi-asserted-by":"publisher","DOI":"10.1089\/hum.2023.102"},{"key":"2026010701522309000_12.1.e003364.47","doi-asserted-by":"crossref","unstructured":"Behan L , Rubbo B , Lucas JS , et al . The patient\u2019s experience of primary ciliary dyskinesia: a systematic review. Quality of life research: an international journal of quality of life aspects of treatment, care and rehabilitation. 2017;26:2265\u201385. doi:10.1007\/s11136-017-1564-y","DOI":"10.1007\/s11136-017-1564-y"},{"key":"2026010701522309000_12.1.e003364.48","doi-asserted-by":"crossref","DOI":"10.1183\/13993003.00392-2021","article-title":"Phenotype-genotype associations in primary ciliary dyskinesia: where do we stand?","volume":"58","author":"Goutaki","year":"2021","journal-title":"Eur Respir J"},{"key":"2026010701522309000_12.1.e003364.49","doi-asserted-by":"crossref","unstructured":"Lam YT , Schreck L , Behan L , et al . Treatment burden in primary ciliary dyskinesia in switzerland. European Respiratory Journal 2024. doi:10.1183\/13993003.congress-2024.PA4063","DOI":"10.1183\/13993003.congress-2024.PA4063"},{"key":"2026010701522309000_12.1.e003364.50","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1111\/jcpp.12727","article-title":"Research Review: Childhood chronic physical illness and adult emotional health - a systematic review and meta-analysis","volume":"58","author":"Secinti","year":"2017","journal-title":"J Child Psychol Psychiatry"},{"key":"2026010701522309000_12.1.e003364.51","doi-asserted-by":"crossref","DOI":"10.1111\/hex.70316","article-title":"\u201cNobody Has Ever Spoken to Me About PCD and Fertility Issues\u201d: Fertility Experiences of People With Primary Ciliary Dyskinesia and Their Family Caregivers","volume":"28","author":"Schreck","year":"2025","journal-title":"Health Expect"}],"container-title":["BMJ Open Respiratory Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bmjresp-2025-003364","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,7]],"date-time":"2026-01-07T09:54:15Z","timestamp":1767779655000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmjopenrespres.bmj.com\/lookup\/doi\/10.1136\/bmjresp-2025-003364"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12]]},"references-count":51,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12,14]]},"published-print":{"date-parts":[[2025,12]]}},"alternative-id":["10.1136\/bmjresp-2025-003364"],"URL":"https:\/\/doi.org\/10.1136\/bmjresp-2025-003364","relation":{},"ISSN":["2052-4439"],"issn-type":[{"value":"2052-4439","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,12]]}}}