Publications

Editorial

The BEAT-PCD (Better Experimental Approaches to Treat Primary Ciliary Dyskinesia) Clinical Research Collaboration

This editorial, published in the European Respiratory Journal features the new BEAT-PCD Clinical Research Collaboration supported by the European Respiratory Society. The editorial provides an overview of the BEAT-PCD network and summarizes its main objectives and planned actions.

Goutaki M, Crowley S, Dehlink E, Gaupmann R, Horton KL, Kouis P, Lam YT, Loges NT, Lucas JS, Roehmel JF, Shoemark A; BEAT-PCD Clinical Research Collaboration. The BEAT-PCD (Better Experimental Approaches to Treat Primary Ciliary Dyskinesia) Clinical Research Collaboration. Eur Respir J. 2021 Feb 4;57(2):2004601

BEAT-PCD ERS CRC aims to showcase all PCD related research, published from members of the network. To acknowledge the participation to BEAT-PCD, authors are invited to include the following statement in the declarations section of their manuscript:

“Study authors and data contributors participate in the BEAT-PCD clinical research collaboration, supported by the European Respiratory Society.”

Featured publications

  • European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia

    Amelia Shoemark  Myrofora Goutaki  BreAnna Kinghorn  Cristina Ardura-Garcia  Noelia Baz-Redón Mark Chilvers  Stephanie D. Davis  Jana De Brandt  Sharon Dell  Raja Dhar  Lucy Dixon  Thomas Ferkol  Claire Hogg Marie Legendre Margaret Leigh  Jane S. Lucas  Michele Manion  Nisreen Rumman  Ingrid Toews  Valerie Labonte Wallace B. Wee Panayiotis Kouis  Amjad Horani  See Less

    European Respiratory Journal 2025 66(6): 2500745; DOI: https://doi.org/10.1183/13993003.00745-2025

  • A BEAT-PCD consensus statement: a core outcome set for pulmonary disease interventions in primary ciliary dyskinesia

    Renate Kos  Myrofora Goutaki  Helene E. Kobbernagel  Bruna Rubbo  Amelia Shoemark  Stefano Aliberti Josje Altenburg  Pinelopi Anagnostopoulou  Rodrigo A. Athanazio  Nicole Beydon  Sharon D. Dell Nagehan Emiralioglu  Thomas W. Ferkol  Michael R. Loebinger  Natalie Lorent  Bernard Maître  June Marthin Lucy C. Morgan  Kim G. Nielsen  Felix C. Ringshausen  Michal Shteinberg  Harm A.W.M. Tiddens Anke H. Maitland-Van der Zee  James D. Chalmers  Jane S.A. Lucas  Eric G. Haarman  See Less

    ERJ Open Research 2024 10(1): 00115-2023; DOI: https://doi.org/10.1183/23120541.00115-2023

  • Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard

    Nicole Beydon  Panayiotis Kouis  June K. Marthin  Philipp Latzin  Murielle Colas  Stephanie D. Davis Eric Haarman  Amanda Lea Harris  Claire Hogg  Emma Kilbride  Claudia E. Kuehni  Diana Marangu  Kim G. Nielsen Catherine Pendergrast  Phil Robinson  Nisreen Rumman  Matthew Rutter  Woolf T. Walker  Thomas Ferkol Jane S. Lucas  See Less

    European Respiratory Journal 2023 61(4): 2202031; DOI: https://doi.org/10.1183/13993003.02031-2022

  • International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria)

    Amelia Shoemark  Mieke Boon  Christoph Brochhausen  Zuzanna Bukowy-Bieryllo  Maria M. De Santi  Patricia Goggin Paul Griffin  Richard G. Hegele  Robert A. Hirst  Margaret W. Leigh  Alison Lupton  Karen MacKenney  Heymut Omran Jean-Claude Pache  Andreia Pinto  Finn P. Reinholt  Josep Schroeder  Panayotis Yiallouros  Estelle Escudier representing the BEAT-PCD Network Guideline Development Group  See Less

    European Respiratory Journal 2020 55(4): 1900725; DOI: https://doi.org/10.1183/13993003.00725-2019

  • International consensus statement on routine blood testing in primary ciliary dyskinesia

    Sarah Altaraihi  June K. Marthin  Pinelopi Anagnostopoulou  Mieke Boon  Siobhan B. Carr  Silvia Castillo-Corullón Eleonora Dehlink  Damien M.S. Destouches  Jamie Duckers  Eric G. Haarman  Bülent Karadag  Christina Kavouridou Michael R. Loebinger  Bernard Maitre  Henryk Mazurek  Lucy Morgan  Heymut Omran  Ugur Ozcelik Daniel Peckam  Massimo Pifferi  Petr Pohunek  Tavs Qvist  Johanna Raidt  Phillipe Reix  Felix C. Ringshausen Phil Robinson  Evie Robson  Jobst Röhmel  Francesca Santamaria  Anne Schlegtendal  Nicola Ullmann Woolf Walker  Panayiotis Yiallouros  Guillaume Thouvenin  Suzanne Crowley  Kim G. Nielsen  See Less

    ERJ Open Research 2025 11(3): 01071-2024; DOI: https://doi.org/10.1183/23120541.01071-2024

  • Marthin JK, Lucas JS, Boon M, Casaulta C, Crowley S, Destouches DMS, Eber E, Escribano A, Haarman E, Hogg C, Maitre B, Marsh G, Martinu V, Moreno-Galdó A, Mussaffi H, Omran H, Pohunek P, Rindlisbacher B, Robinson P, Snijders D, Walker WT, Yiallouros P, Johansen HK, Nielsen KG. International BEAT-PCD consensus statement for infection prevention and control for primary ciliary dyskinesia in collaboration with ERN-LUNG PCD Core Network and patient representatives. ERJ Open Res. 2021 Aug 2;7(3):00301-2021. doi: 10.1183/23120541.00301-2021. PMID: 34350277; PMCID: PMC8326680.

Publications from the BEAT-PCD CRC network

2026

Zhou H, Terbeck L, Berical A, Brunet M, Lange SV, Anderson JR, Olbrich H, Bracht DC, Wohlgemuth K, Rieck C, Raidt J, Klingauf J, Sutharsan S, Mussaffi H, Prais D, Dunphy V, Homma ST, Guichard P, Hamel V, Hawkins FJ, Omran H, Brown A. In situ structure of the human ciliary transition zone links linker defects to primary ciliary dyskinesia. Science, 10.1126/science.aei5957 (2026).

Schofield L, Smith L, Marshall H, Hughes D, Biancardi A, Bray J, Capener D, Collier G, Fazal S, Moya E, Munro R, Norquay G, Robson E, Rodgers O, Shanks S, Shawcross A, Singh SJ, Stewart N, West N, Zalewska A, Hind D, Wild JM. Structure and function imaging in primary ciliary dyskinesia: cross-sectional study with 129Xe ventilation/1H anatomical magnetic resonance imaging. ERJ Open Res. 2026 Jul 6;12(4):00984-2025. doi: 10.1183/23120541.00984-2025.

Kouis P, Bottier M, Rumman N, Shanks M, Buekers J, Megaritis D, ProtopapasA, Shoemark A, Goutaki M, Jackson C. Systematic review of artificial intelligence and digital-automated tools for screening, diagnosis and characterisation of Primary Ciliary Dyskinesia. ERJ Open Research 2026 01694-2025; DOI: https://doi.org/10.1183/23120541.01694-2025

Ong JWY, Tsang W, Lucas JS et al. Utilising human cellular models of primary ciliary dyskinesia: a scoping review. Eur Respir Rev. 2026 35(181): 250193. DOI: 10.1183/16000617.0193-2025

Ong JWY, Jackson CL, Arbi M, et al. Preclinical human cellular models of primary ciliary dyskinesia. Eur Respir Rev. 2026 35(181): 250334. DOI: 10.1183/16000617.0334-2025

Karavasiloglou N, Gkatzou V, Fernandez-Rodriguez A, Schwartz V, Goutaki M. Nutrition and growth of primary ciliary dyskinesia patients: a systematic review. Eur Respir Rev. 2026 May 27;35(180):260024. doi: 10.1183/16000617.0024-2026.

Rubbo B, Behan L, Newman LM, Coles J, Goodwin J, Hirst RA, Jackson CL, Driessens C, Goutaki M, Kuehni CE, Lucas JS. Mapping challenges in the delivery of care for primary ciliary dyskinesia, an international survey on barriers and priorities. ERJ Open Research 2026 01624-2025; DOI: doi: 10.1183/23120541.01624-2025

Rubbo B, Ong JWY, Tsang W, Newman LM, Lucas JS. Follow-Up of Children With Primary Ciliary Dyskinesia. Pediatr Pulmonol. 2026 May;61(5):e71679. doi: 10.1002/ppul.71679

Thomas L, Serizay J, Mani R, Couvet S, Papon JF, et al.. FOXJ1 transcriptional targets in human airway cells and impaired multiciliogenesis in FOXJ1-associated primary ciliary dyskinesia. Am J Respir Cell Mol Biol. 2026 Mar 30:aanag071. doi: 10.1093/ajrcmb/aanag071.

Haarman EG, Israëls J, Rutjes NW, Paff T. The Value of Nasal Nitric Oxide Measurement in the Diagnosis of Primary Ciliary Dyskinesia. Pediatr Pulmonol. 2026 Apr;61(4):e71574. doi: 10.1002/ppul.71574.

Harman K, Horani A, Shoemark A. The Diagnosis of Primary Ciliary Dyskinesia: Putting The European Respiratory/American Thoracic Guideline Into Practice. Pediatr Pulmonol. 2026 Apr;61(4):e71577. doi: 10.1002/ppul.71577

Schneiter M, Wyss J, Schori J, Arnold P, Frenz M, Cicuta P, Tschanz SA, Stefanov A, Müller L. Quantitative analysis of mucociliary activity by computational high-speed video reflection microscopy. Eur Biophys J. 2026 Mar 16. doi: 10.1007/s00249-026-01835-6.

2025

Shoemark A, Goutaki M, Kinghorn B, Ardura-Garcia C, Baz-Redón N, Chilvers M, Davis SD, De Brandt J, Dell S, Dhar R, Dixon L, Ferkol T, Hogg C, Legendre M, Leigh M, Lucas JS, Manion M, Rumman N, Toews I, Labonte V, Wee WB, Kouis P, Horani A. European Respiratory Society and American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia. European Respiratory Journal 2025 66(6): 2500745; DOI: https://doi.org/10.1183/13993003.00745-2025

Matthaiou AM, Demetropoulou A, Kouis P, Douros K, Yiallouros P, Anagnostopoulou P. Multiple breath washout in primary ciliary dyskinesia: a systematic review of the literature. Eur Respir Rev. 2025 Jun 18;34(176):250002. doi: 10.1183/16000617.0002-2025. PMID: 40533103; PMCID: PMC12175072.

Schreck LD, Meyer S, Pedersen ESL, Lam YT, Silberschmidt H, Bellu S, Living with PCD patient advisory group, Zambrano SC, Kuehni CE and Goutaki M. (2025), ‘Nobody Has Ever Spoken to Me About PCD and Fertility Issues’: Fertility Experiences of People With Primary Ciliary Dyskinesia and Their Family Caregivers. Health Expectations, 28: e70316. https://doi.org/10.1111/hex.70316

2024

Kewei Zhang  Avni Kant  Mieke Boon  Melissa Borrelli  Carolina Constant et al.  Natural variability of lung function in primary ciliary dyskinesia: longitudinal analysis from the PROVALF-PCD cohort. ERJ Open Research 2025 11(3): 01115-2024; DOI: https://doi.org/10.1183/23120541.01115-2024

Rubbo B, Kant A, Zhang K, Allegorico A, Basilicata S, Boon M, et a.. Associations between respiratory pathogens and lung function in primary ciliary dyskinesia: cross-sectional analysis from the PROVALF-PCD cohort. ERJ Open Res. 2024 Sep 30;10(5):00253-2024. doi: 10.1183/23120541.00253-2024.

Holly A. Black PhD, Sophie Marion de Proce PhD, Jose L. Campos PhD, Alison Meynert PhD, Mihail Halachev PhD, Joseph A. Marsh PhD, Robert A. Hirst PhD, Chris O'Callaghan MD, PhD, Amelia Shoemark PhD, Daniel Toddie-Moore PhD, Scottish Genomes Partnership, Javier Santoyo-Lopez PhD, Jennie Murray MD, PhD, Kenneth Macleod MD, PhD, Don S. Urquhart MD, Stefan Unger MD, PhD, Timothy J. Aitman MB ChB, DPhil, Pleasantine Mill PhD. Whole genome sequencing enhances molecular diagnosis of primary ciliary dyskinesia. Pediatr Pulmonol. 2024;59:3322-3332. doi:10.1002/ppul.27200

Schreck LD, Pedersen ESL, Dexter K, Manion M, Living with PCD Study Advisory Group, Massin N, Maitre B, Goutaki M, Kuehni CE, Infertility and pregnancy outcomes among adults with primary ciliary dyskinesia, Human Reproduction Open, Volume 2024, Issue 3, 2024, hoae039, https://doi.org/10.1093/hropen/hoae039

Schreck LD, Pedersen ESL, Cizeau I, Müller L, Kruljac C, Lucas JS, et al. (2023) Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study. PLOS Glob Public Health 3(9): e0001522. https://doi.org/10.1371/journal.pgph.0001522

Goutaki M, Lam YT, Rubbo B, Chalmers JD, Kouis P, Marsh G, Papon JF, Raidt J, Robinson P, Behan L, Lucas JS. Priorities and barriers for research related to primary ciliary dyskinesia medRxiv 2024.01.08.24300986; doi: https://doi.org/10.1101/2024.01.08.24300986

Kos R, Goutaki M, Kobbernagel HE, Rubbo B, Shoemark A, Aliberti S, Altenburg J, Anagnostopoulou P, Athanazio RA, Beydon N, Dell SD, Emiralioglu N, Ferkol TW, Loebinger MR, Lorent N, Maître B, Marthin J, Morgan LC, Nielsen KG, Ringshausen FC, Shteinberg M, Tiddens HAWM, Maitland-Van der Zee AH, Chalmers JD, Lucas JSA, Haarman EG. A BEAT-PCD consensus statement: a core outcome set for pulmonary disease interventions in primary ciliary dyskinesia. ERJ Open Res. 2024 Jan 8;10(1):00115-2023. doi: 10.1183/23120541.00115-2023. PMID: 38196895; PMCID: PMC10772902.

Sarah Altaraihi  June K. Marthin  Pinelopi Anagnostopoulou  Mieke Boon , et al. International consensus statement on routine blood testing in primary ciliary dyskinesia. ERJ Open Research 2025 11(3): 01071-2024; DOI: https://doi.org/10.1183/23120541.01071-2024

2023

Raidt J, Riepenhausen S, Pennekamp P, Olbrich H, Amirav I, Athanazio RA, Aviram M, et al. . Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations. Eur Respir J. 2024 Aug 8;64(2):2301769. doi: 10.1183/13993003.01769-2023.

Schreck LD, Goutaki M, Jörger P, Dexter K, Manion M, Christin-Maitre S, Maitre B; COVID-PCD Patient Advisory Group; Kuehni CE, Pedersen ESL. Fertility care among people with primary ciliary dyskinesia. Pediatr Pulmonol. 2024 Feb;59(2):281-290.

Alexandru M, Veil R, Rubbo B, Goutaki M, Kim S, Lam YT, Nevoux J, Lucas JS, Papon JF. Ear and upper airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review. Eur Respir Rev. 2023 Jul 12;32(169):220200. doi: 10.1183/16000617.0200-2022. PMID: 37437912; PMCID: PMC10336562.

Goutaki M, Lam YT, Alexandru M, Anagiotos A, Armengot M, Boon M, Burgess A, Caversaccio N, Crowley S, Dheyauldeen SAD, Emiralioglu N, Erdem E, van Gogh C, Gunaydin O, Haarman EG, Harris A, Hayn I, Ismail-Koch H, Karadag B, Kempeneers C, Kim S, Lorent N, Ozcelik U, Pioch C, Poirrier AML, Reula A, Roehmel J, Yiallouros P, Yumusakhuylu AC, Papon JF. Characteristics of Otologic Disease Among Patients With Primary Ciliary Dyskinesia. JAMA Otolaryngol Head Neck Surg. 2023 Jul 1;149(7):587-596. doi: 10.1001/jamaoto.2023.0841. PMID: 37166807; PMCID: PMC10176184.

Lam YT, Papon JF, Alexandru M, Anagiotos A, Armengot M, Boon M, Burgess A, Crowley S, Dheyauldeen SAD, Emiralioglu N, Erdem Eralp E, van Gogh C, Gokdemir Y, Gunaydın O, Haarman EG, Harris A, Hayn I, Ismail-Koch H, Karadag B, Kempeneers C, Kim S, Latzin P, Lorent N, Ozcelik U, Pioch C, Poirrier AML, Reula A, Roehmel J, Yiallouros P; EPIC-PCD team; Goutaki M; EPIC-PCD team:. Sinonasal disease among patients with primary ciliary dyskinesia: an international study. ERJ Open Res. 2023 May 22;9(3):00701-2022. doi: 10.1183/23120541.00701-2022. PMID: 37228283; PMCID: PMC10204851.

Beydon N, Kouis P, Marthin JK, Latzin P, Colas M, Davis SD, Haarman E, Harris AL, Hogg C, Kilbride E, Kuehni CE, Marangu D, Nielsen KG, Pendergrast C, Robinson P, Rumman N, Rutter M, Walker WT, Ferkol T, Lucas JS. Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard. Eur Respir J. 2023 Apr 20;61(4):2202031. doi: 10.1183/13993003.02031-2022. PMID: 36822632.

2014-2022: Older publications (pdf)

BEAT-PCD Meeting proceedings

Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School (2020)

Proceedings of the 3rd BEAT-PCD Conference and 4th PCD Training School (2018)

Proceedings of the 2nd BEAT-PCD conference and 3rd PCD training school: Part 1 & Part 2 (2018)

Proceedings of the COST action BM1407 inaugural conference BEAT-PCD: translational research in primary ciliary dyskinesia - bench, bedside, and population perspectives (2016).