Publications

Using EPIC-PCD data, we studied associations of several reported ENT symptoms and chronic rhinosinusitis (defined using patient-reported information and examination findings) with reported sputum production and shortness of breath. Reported upper airway symptoms and signs of chronic rhinosinusitis associated with reported pulmonary symptoms, but not with lung function. Our results emphasise the assessment and management of upper and lower respiratory disease as a common, interdependent entity among patients with PCD. Lam YT, Papon J-F, Alexandru M, et al. Association between upper and lower respiratory disease among patients with primary ciliary dyskinesia: an international study. ERJ Open Res 2024; 10: 00932-2023 [DOI: 10.1183/23120541.00932-2023].

This manuscript has recently been accepted for publication in the ERJ Open Research. A multidisciplinary international PCD expert panel was set up to list reliable and clinically appropriate outcome measures for clinical trials based on published literature. This expert consensus resulted in a Core Outcome Set (COS) for clinical trials on pulmonary health among people with primary ciliary dyskinesia.

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.

Using questionnaire data from the COVID-PCD study, the study team described fertility care in PCD involving 384 participants. Findings reveal that only half of adult participants received care from fertility specialists, with a median age of 30, often years after PCD diagnosis. The study suggests the need for standardized fertility care in routine PCD management, emphasizing early provision of fertility information by PCD physicians.

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. doi: 10.1002/ppul.26743.

The aim of this study was to identify ear and upper airway outcome measures that could be used for longitudinal follow-up of individuals with PCD. There is a lack of data and a high heterogeneity in definitions and measures of ENT outcomes in PCD. Based on suggestions from this scoping review, future PCD research should homogenise ENT outcome definitions to improve follow-up and treatments.

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.

In this cross-sectional study, many people with PCD experienced ear problems, yet frequency varied, highlighting disease expression differences and possible clinical phenotypes. Understanding differences in otologic disease expression and progression during lifetime may inform clinical decisions about follow-up and medical care. Multidisciplinary PCD management should be recommended, including regular otologic assessments for all ages, even without specific complaints.

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.

Using baseline data from the Ear, nose and throat (ENT) Prospective International Cohort of PCD patients, the EPIC-PCD team describe sinonasal disease in PCD. Based on their findings, regular sinonasal examinations are relevant for patients with PCD of all ages. There is a need for improved management of sinonasal disease supported by evidence-based guidelines.

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.

The European Respiratory Society (ERS) technical standard titled “Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia” was developed by an international and multidisciplinary ERS Task Force as the first step towards standardising sampling, analysis, and reporting of nasal Nitric Oxide (nNO) measured as part of the diagnostic testing for Primary Ciliary Dyskinesia in all age groups including preschool-age children.

The technical standard relied on evidence collected through a systematic literature review and considered chemiluminescence and electrochemical analysers that are in use worldwide. It includes considerations for devices and consumables, calibration, maintenance requirements and environmental nitric oxide, as well as considerations for personnel training, patient preparation, standard operating procedures (SOP) for nNO measurement and reporting and interpretation of results. In addition, the technical standard highlights the main gaps in our current knowledge, primarily regarding the use of electrochemical analysers, and the role of nNO measurements in the diagnostic work-up of PCD in pre-school children and presents potential directions for future research.

The technical standard is expected to facilitate standardization of nNO measurement for PCD diagnosis internationally.

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.

In this editorial, authors shows that PCD as a cause of bronchiectasis has a higher prevalence than previously thought. The diagnostic process will need to be adapted to the ongoing research. The treatment of PCD and bronchiectasis is exclusively symptomatic but with new studies for personalised and disease specific treatment, this will hopefully change in the future making treatment more effective

Pioch CO, Connell DW, Shoemark A. Primary Ciliary Dyskinesia and Bronchiectasis: New Data and Future Challenges. Arch Bronconeumol. 2023 Mar;59(3):134-136. English, Spanish. doi: 10.1016/j.arbres.2022.12.001. Epub 2022 Dec 18. PMID: 36639347.

Airway ciliary function analysis underpins PCD diagnostics and ex vivo/in vitro mucociliary clearance studies. It is an important measure of airway culture model integrity in health and after microbial/viral infections or airway drug therapies.

Jackson CL, Bottier M. Methods for the assessment of human airway ciliary function. Eur Respir J. 2022 Jul 28;60(1):2102300. doi: 10.1183/13993003.02300-2021. PMID: 35595315.

Disease-specific, well-defined and validated clinical outcome measures are essential in designing research studies. Poorly defined outcome measures hamper pooling of data and comparisons between studies. Authors aimed to identify and describe pulmonary outcome measures that could be used for follow-up of patients with primary ciliary dyskinesia (PCD). This review highlights the need for standardisation of measurements and reporting of outcome measures to enable comparisons between studies. Defining a core set of clinical outcome measures is necessary to ensure reproducibility of results and for use in future trials and prospective cohorts.

Gahleitner F, Thompson J, Jackson CL, Hueppe JF, Behan L, Dehlink E, Goutaki M, Halbeisen F, Queiroz APL, Thouvenin G, Kuehni CE, Latzin P, Lucas JS, Rubbo B. Lower airway clinical outcome measures for use in primary ciliary dyskinesia research: a scoping review. ERJ Open Res. 2021 Nov 29;7(4):00320-2021. doi: 10.1183/23120541.00320-2021. PMID: 34853782; PMCID: PMC8628193.

The BEAT-PCD TEM consensus statement was published in the European Respiratory Journal in April this year. This is an internationally agreed ultrastructural classification for PCD diagnosis by transmission electron microscopy. The consensus statement was developed through the BEAT-PCD network by specialists from 21 centers across 14 different countries.

The BEAT-PCD consensus provides guidance on agreed terminology and a definition of Class 1 defects which are diagnostic for PCD (outer dynein arm, inner and outer dynein arm and microtubular disorganization plus inner dynein arm defects). In addition the consensus identifies Class 2 defects which are indicative of a PCD diagnosis in combination with other supporting evidence, for example central complex defects. The consensus also defines the features which should be included in a ciliary ultrastructure report to assist multidisciplinary diagnosis of PCD along with the adequacy of a diagnostic sample.

This consensus statement is expected to facilitate standardization of diagnosis & research internationally.

Shoemark A, Boon M, Brochhausen C, Bukowy-Bieryllo Z, De Santi MM, Goggin P, Griffin P, Hegele RG, Hirst RA, Leigh MW, Lupton A, MacKenney K, Omran H, Pache JC, Pinto A, Reinholt FP, Schroeder J, Yiallouros P, Escudier E; representing the BEAT-PCD Network Guideline Development Group. International consensus guideline for reporting transmission electron microscopy results in the diagnosis of primary ciliary dyskinesia (BEAT PCD TEM Criteria). Eur Respir J. 2020 Apr 16;55(4):1900725. doi: 10.1183/13993003.00725-2019. PMID: 32060067.

The manuscript describes in detail the first steps of the protocol and the resulting version 1.0 of FOLLOW-UP in English. In addition, it explains the next planned steps. FOLLOW-PCD is a standardised clinical PCD form and patient questionnaire, developped in the framework of the BEAT-PCD COST Action by a multidisciplenary group of experts. Data collected in FOLLOW-PCD version 1.0 is available in real-time for national and international monitoring and research. The form will be adapted in the future after extensive piloting in different settings and we encourage the translation of the patient questionnaires to multiple languages. FOLLOW-PCD will facilitate quality research based on prospective standardised data from routine care, which can be pooled between centres, to provide first-line and real-time evidence for clinical decision-making.

Goutaki M, Papon JF, Boon M, Casaulta C, Eber E, Escudier E, Halbeisen FS, Harris A, Hogg C, Honore I, Jung A, Karadag B, Koerner-Rettberg C, Legendre M, Maitre B, Nielsen KG, Rubbo B, Rumman N, Schofield L, Shoemark A, Thouvenin G, Willkins H, Lucas JS, Kuehni CE. Standardised clinical data from patients with primary ciliary dyskinesia: FOLLOW-PCD. ERJ Open Res. 2020 Feb 10;6(1):00237-2019. doi: 10.1183/23120541.00237-2019. PMID: 32055632; PMCID: PMC7008138.