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Background: Consistent use of reliable and clinically appropriate outcome measures is a priority for clinical trials, with clear definitions to allow comparability. We aimed to develop a core outcome set (COS) for pulmonary disease interventions in primary ciliary dyskinesia (PCD)., Methods: A multidisciplinary international PCD expert panel was set up. A list of outcomes was created based on published literature. Using a modified three-round e-Delphi technique, the panel was asked to decide on relevant end-points related to pulmonary disease interventions and how they should be reported. First, inclusion of an outcome in the COS was determined. Second, the minimum information that should be reported per outcome. The third round finalised statements. Consensus was defined as ≥80% agreement among experts., Results: During the first round, experts reached consensus on four out of 24 outcomes to be included in the COS. Five additional outcomes were discussed in subsequent rounds for their use in different subsettings. Consensus on standardised methods of reporting for the COS was reached. Spirometry, health-related quality-of-life scores, microbiology and exacerbations were included in the final COS., Conclusion: This expert consensus resulted in a COS for clinical trials on pulmonary health among people with PCD., Competing Interests: Conflict of interest: S. Aliberti has received fees outside of this work from Insmed, Zambon, AstraZeneca, CSL Behring GmbH, Grifols, Fondazione Internazionale MENARINI, MSD Italia S.r.l., Brahms, Physioassist SAS and GlaxoSmithKline. S.D. Dell has received grants outside of this work from Boehringer Ingelheim, Vertex and Sanofi, and she owns the copyright to the PCD-QOL Questionnaires. T.W. Ferkol has received consulting fees from Translate Bio and Arrowhead Pharmaceuticals. R.A. Athanazio has received personal fees outside of this work from Astrazeneca, Chiesi, GSK, Omron, Sanofi, Vertex and Zambon. K.G. Nielsen is part of the European Reference Network on respiratory diseases (ERN-LUNG) and director of PCD CTN. F.C. Ringshauen has received fees outside of this work from AstraZeneca, Boehringer Ingelheim, Celtaxsys, Corbus, Insmed, Novartis, Parion, University of Dundee, Vertex and Zambon. M. Shteinberg has received consulting fees from AstraZeneca, Boehringer Ingelheim, Dexcel, Kamada, Synchrony Medical, Trumed and Zambon. J.D. Chalmers has received grants outside of this work from AstraZeneca, Boehringer Ingelheim, Chiesi, GlaxoSmithKline, Gilead Sciences, Grifols, Insmed, Janssen, Novartis, Pfizer and Zambon; and is an associate editor of this journal. The remaining authors have nothing to disclose., (Copyright ©The authors 2024.)

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by impaired mucociliary clearance leading to irreversible lung damage. In contrast to other rare lung diseases like cystic fibrosis (CF), there are only few clinical trials and limited evidence-based treatments. Management is mainly based on expert opinions and treatment is challenging due to a wide range of clinical manifestations and disease severity. To improve clinical and translational research and facilitate development of new treatments, the clinical trial network for PCD (PCD-CTN) was founded in 2020 under the framework of the European Reference Network (ERN)-LUNG PCD Core. Applications from European PCD sites interested in participating in the PCD-CTN were requested. Inclusion criteria consisted of patient numbers, membership of ERN-LUNG PCD Core, use of associated standards of care, experience in PCD and/or CF clinical research, resources to run clinical trials, good clinical practice (GCP) certifications and institutional support. So far, applications from 22 trial sites in 18 European countries have been approved, including >1400 adult and >1600 paediatric individuals with PCD. The PCD-CTN is headed by a coordinating centre and consists of a steering and executive committee, a data safety monitoring board and committees for protocol review, training and standardisation. A strong association with patient organisations and industrial companies are further cornerstones. All participating trial sites agreed on a code of conduct. As CTNs from other diseases have demonstrated successfully, this newly formed PCD-CTN operates to establish evidence-based treatments for this orphan disease and to bring new personalised treatment approaches to patients., Competing Interests: Conflict of interest: J. Raidt declares grants for Clinical Research Unit “Male Germ Cells: from Genes to Function” (CRU 326) – Subproject RA3522/1-1 from the Deutsche Forschungsgemeinschaft, in connection with the present manuscript; that they are a holder of patent WO 2020/165352 A1 (Treatment of ciliopathies); and an unpaid role as a Deputy Director of PCD-CTN. Conflict of interest: B. Maitre declares unpaid roles as a Deputy Director of PCD-CTN and as a member of the scientific committee of RADICO PCD. Conflict of interest: P. Pennekamp declares research grants to their institution from NEOCYST (BMBF, 01GM1903A); and that they are a holder of patent WO 2020/165352 A1 (Treatment of ciliopathies). Conflict of interest: M. Armengot declares research grant FIS PI19/00949 from Instituto de Salud Carlos III, in connection with the present manuscript. Conflict of interest: M. Boon declares Forton grant 2020-J1810150-217926 from the King Baudouin Foundation, in the 36 months prior to manuscript submission. Conflict of interest: S.B. Carr declares grants to their institution from the National Institute of Health Research (Programme Development Grant 202952; Health Technology Assessment Grant NIHR121889; HTA grant 14/22/23; NIHR RfPb QOL-PCD; NIHR RfPb VALU- CF); consulting fees paid to their institution by Vertex Pharmaceuticals; personal and institutional honoraria from Chiesi Pharmaceuticals; payment to their institution for participation on a Data Safety Monitoring Board or Advisory Board from Profile Pharma, Pharmaxis and Vertex Pharmaceuticals, all in the 36 months prior to manuscript submission; and that they are Chair of the UK CF Registry Steering Committee (payment to their institution) and of the European CF Society Patient Registry Scientific Committee (unpaid). Conflict of interest: M.A. Mall declares research grant 82DZL009B1 from the German Federal Ministry of Education and Research, in connection with the present manuscript. Conflict of interest: M. Narayanan declares that they have been a co-applicant on the National Institute for Health Research – Research for patient benefit (NIHR –RfPB) grant for ‘Parent reported quality of life measures for young children with primary ciliary dyskinesia (QOL-PCD study)’ in the 36 months prior to manuscript submission; and that they are a member of the British Paediatric Respiratory Society executive committee and the British Thoracic Society standards of care committee. Conflict of interest: P. Pohunek declares research grants from the Ministry of Health of the Czech Republic (NV19-07-00210) and Charles University Grant Agency (670119P) in connection with the present manuscript. Conflict of interest: S. Range declares an unpaid role as medical advisor to PCD Support. Conflict of interest: F.C. Ringshausen declares grants to their institution from the German Center for Lung Research (DZL), the German Center for Infection Research (DZIF), IMI (EU/EFPIA), iABC Consortium (including Alaxia, Basilea, Novartis and Polyphor), Mukoviszidose Institute, Novartis, Insmed Germany, Grifols, Bayer and InfectoPharm; consulting fees from Parion, Grifols, Zambon, Insmed and the Helmholtz-Zentrum für Infektionsforschung; payments or honoraria from I!DE Werbeagentur GmbH; Interkongress GmbH; AstraZeneca; Insmed; Grifols and Universitätsklinikum Frankfurt am Main; payment to their institution for expert testimony at the Social Court Cologne; support for attending meetings from German Kartagener Syndrome and PCD PAG and Mukoviszidose e.V; participation on a Data Safety Monitoring Board or Advisory Board for Insmed, Grifols and Shionogi; fees for clinical trial participation paid to their institution by Abbvie, AstraZeneca, Boehringer Ingelheim, Celtaxsys, Corbus, Insmed, Novartis, Parion, University of Dundee, Vertex and Zambon; and honorary roles as Coordinator of the ERN-LUNG Bronchiectasis Core Network, Chair of the German Bronchiectasis Registry PROGNOSIS, Member of the SteerCo of the European Bronchiectasis Registry EMBARC, Member of the SteerCo of the European NTM Registry EMBARC-NTM, Co-Speaker of the Medical Advisory Board of the German Kartagener Syndrome and PCD PAG, Speaker of the Respiratory Infections and TB group of the German Respiratory Society (DGP), Speaker of the Cystic Fibrosis group of German Respiratory Society (DGP), PI of the DZL, member of the protocol review committee of the PCD-CTN and Member of Physician Association of the German Cystic Fibrosis PAG. Conflict of interest: J. Roehmel declares payments or honoraria from Vertex Pharmaceuticals, in the 36 months prior to manuscript submission. Conflict of interest: G. Thouvenin declares unpaid membership of the RADICO PCD scientific committee. Conflict of interest: H. Omran declares grants for Clinical Research Unit “Male Germ Cells: from Genes to Function” (CRU 326) – Subproject RA3522/1-1 from the Deutsche Forschungsgemeinschaft, from Interdisziplinaeres Zentrum für Klinische Forschung Muenster (Om2/009/12; Om2/015/16; Om2/010/20), from BESTCILIA (EU FP7 GA 305404) and from Registry Warehouse (Horizon2020 GA 777295), all in connection with the present manuscript; in addition to grants to their institution from LYSOCIL (Horizon2020 GA n°811087) NEOCYST (BMBF, 01GM1903A) and Transkripttherapie für primäre ziliäre Dyskinesien (Zentrales Innovationsprojekt Mittelstand (ZIM), BMWi; ZF-4610102SK8), in the 36 months prior to manuscript submission; that they are a holder of patent WO 2020/165352 A1 (Treatment of ciliopathies); and unpaid roles as Head of the ERN-LUNG PCD Core and as a member of the PCD Family Support Group medical advisory board. Conflict of interest: K.G. Nielsen declares funding for the present manuscript from the Danish Children's Lung Foundation (Børnelungefonden); and an unpaid role as a Director of the PCD-CTN. Conflict of interest: All other authors declare no competing interests., (Copyright ©The authors 2022.)