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What is this talk about?

The diagnosis of Primary Ciliary dyskinesia (PCD) is challenging because of the absence of a single gold standard test. Both the European Respiratory Society and the American Thoracic Society recognise the importance of High-Speed Video-Microscopy (HSVM) as one of the diagnostic tools. Ciliated cells from nasal or bronchial brushings are recorded through HSVM. Videos can be replayed at slower rate to visualize the cilia motion. Ciliary Beat Frequency (CBF) and/or Ciliary Beat Pattern (CBP) parameters can be calculated.

About Dr Mathieu Bottier:

After a PhD thesis on ciliary beating mechanisms at the University of Paris-Est (France) and a postdoctoral position on Chlamydomonas R. cilia waveform at Washington University in St. Louis (MO, USA), Dr Mathieu Bottier is now a postdoctoral researcher at the University of Dundee (Scotland, UK) working on cilia function in bronchiectasis.

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What is this talk about?

The European Respiratory Society (ERS) offers different research fellowships for early career scientists and clinicians. Many of these programmes give an opportunity to develop your own project and visit a research institution abroad to learn new research techniques that are not available at their home institution. Our PCD expert will give an overview of the ERS fellowships programmes focusing on short and long-term fellowships, explain the key elements and give hints about the application process. For more information about key deadlines and information:

https://www.ersnet.org/education-and-professional-development/funding-opportunities-fellowship-programmes/

About Dr Myrofora Goutaki:

Dr Goutaki is a medically trained clinical epidemiologist focused on PCD research. She is the co-head of the Swiss PCD registry and leads several PCD projects such as the international ENT PCD cohort study (EPIC-PCD) and she is the co-chair of the BEAT-PCD Clinical Research Collaboration. She has experience with the ERS research fellowship programme as an applicant (short-term ERS fellow) and as a reviewer (member of the ERS college of experts).

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What is this talk about?

Science communication is key to successful poster presentation and getting the most out of your conference experience. Ms Keir will discuss preparing posters for both virtual and in-person audiences, including tips of presenting to a small group and advice on what chairs look for during a poster session.

Dr Eric Haarman (Paediatric pulmonologist, University hospital Amsterdam) will give insight as an expert poster reviewer.

About Ms Holly Keir

Ms Keir is a postdoctoral researcher working in the Chalmers Lab Group at the University of Dundee Ninewells Hospital, UK. Her research interests are in the role of neutrophilic function and the lung microbiome in patients with bronchiectasis and COPD. She has previously been awarded prizes at the ERS Congress, World Bronchiectasis Conference and British Thoracic Society Meeting for abstract and poster presentations, as well has chairing at a number of poster sessions. For her work on potential treatments for Covid-19 she is nominated for the Postgrad Awards 2021.

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What is this talk about?

Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic condition as more than 50 genes have been implicated and as many mutations have been characterized in a single family. There is no single gold standard test to confirm PCD whose diagnosis is based on a combination of investigations. We will see the current genetic approaches (and their limits) in diagnostics and research. You will learn the basics for assessing the pathogenicity of a variant, in a diagnostic or research framework. Examples will illustrate frequent pitfalls and challenges in PCD genetics (e.g. variants of unknown significant, high frequency of PCD mutation carrier in the general population). You will learn how to use online tools to find the frequency of a variation in a population and how to assess if a specific amino-acid is conserved throughout evolution.

About Dr Marie Legendre:

Marie Legendre is a molecular geneticist in Hôpital Trousseau in Paris. She oversees molecular and cellular diagnostics of several rare diseases such as developmental (pituitary deficits and midline defects) and respiratory disorders (surfactant disorders and PCD). She did her PhD in Human Genetics (Sorbonne Université, Paris). One of her main research topics focuses on motile ciliopathies: search for new disease-causing genes and phenotype/genotype correlations, with the aim to better understand the pathophysiology of this heterogeneous condition.

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What is this talk about?

The diagnosis of Primary Ciliary dyskinesia (PCD) can be confirmed by a hallmark defect of ciliary ultrastructure identified by transmission electron microscopy (TEM). Our expert will give an overview of the TEM technique, a guide to understanding a TEM report and highlight typical TEM findings which confirm a PCD diagnosis. The talk will cover challenges in diagnostic TEM, such as patients with normal ultrastructure and identification of defects which are secondary to infection. Finally the relationship between TEM and genotype, and advances in ciliary ultrastructural analysis will be highlighted.

About Dr Amelia Shoemark:

Dr Shoemark is Principal Investigator at the University of Dundee, Scotland and lead Clinical Scientist at the Royal Brompton Hospital in London with more than 20 years experience in diagnostic testing for PCD. She led the TEM section of the ERS PCD diagnostic guideline and more recently headed the team who developed an international consensus statement for PCD diagnosis by TEM. She is co-chair of the BEAT-PCD European Respiratory Society Clinical Research Collaboration. Dr Shoemark holds grants to improve TEM as a diagnostic tool through 3D electron tomography and artificial intelligence.

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What is this talk about?

When setting up a participatory cohort study in PCD, there are many aspects to consider:

Who should be invited to participate? How can people participate, and will they participate?

How to involve patient representatives? How long should the study last and what data should be collected? How will the results be communicated? Such questions must be considered before setting up a study to make sure that research questions can be answered with the least possible systematic bias. Dr Pedersen will talk about experiences from setting up the COVID-PCD study, an international participatory cohort study, and describe some results of the study. 

About Dr Eva Pedersen:

She is a postdoctoral researcher at the University of Bern. Dr Pedersen has a master’s degree in public health from the University of Copenhagen and a PhD in epidemiology from the University of Bern. During her PhD, she helped setting up the Swiss Paediatric Airway Cohort (SPAC), a national clinical cohort of children with respiratory disease. Since April 2020, her research is focused on PCD and with Prof Claudia Kuehni she set up the COVID-PCD study. https://covid19pcd.ispm.ch/en/

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What is this talk about?

NOUS, is the on-site deep-learning system that is being trained to detect the difference between healthy and abnormal cilia in cases suspected of PCD using electron microscopy (EM) images. Different teaching approaches are being tested that include (i) Detection of cilia that are usable for diagnosis (ii) Classification of normal and abnormal cilia, (iii) second classification of abnormal cilia in classes of abnormalities. Over 20,000 EM images of cilia have been input to NOUS and it is showing consistently improved accuracy as the training datasets enlarge. When testing it against diagnostic specialists (n=5) using blinded image datasets, an agreement of >75% in the classification of images was found. This is similar to the agreement measured between individual diagnostic specialists. Furthermore, it is currently being trialled alongside the current diagnostic protocol in order to validate the system for clinical use.

About Ms Andreia Pinto:

She started as a biomedical scientist in histocellular pathology but early refined her area of interest in EM. Dr Pinto worked for more than ten years in Lisbon, solo managing an electron microscopy department, taking in fundamental to translational research. Since 2014, she has been working on PCD, in 2019 she joined the Royal Brompton as a thoracic research associate. Dr Pinto is currently teaching a deep machine learning platform to recognize patterns in EM images of cilia with the aim to roll it out as a tool (PCD-AID) in diagnosis. She has also been involved in investigating new insights of Sars-CoV2 infection of the respiratory airway.

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What is this talk about?

PCD is a genetic disease with chronic upper and lower airway symptoms that are non-specific; therefore several tests are usually required to confirm the diagnosis. These tests are expensive, require expertise, and most of them are only available at specialized centers. 

Countries with limited resources have significant challenges in diagnosing PCD cases. Although clinicians may choose to start basic treatments based on clinical suspicion, however, confirming the diagnosis according to international standards is necessary to participate in international registries, research and clinical trials.

I will talk about my experience in diagnosing PCD cases in Palestine, the challenges, the opportunities, and highlight the importance of international collaborations.

About Dr Nisreen Rumman:

Dr Rumman is a pediatric pulmonologist in Palestine. After receiving her pulmonary training in USA, she started clinical practice in her home country and was challenged by the large numbers of clinically suspected PCD cases. In 2015, she received an ERS short term fellowship to learn more about PCD diagnostics at Southampton PCD center, and since then, she has been participating actively in international PCD meetings and collaborations. Through these collaborations, Dr Rumman was able to confirm diagnosis in her PCD patients and include them in international research projects.

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What is this talk about?

This session will provide insight into commonly used airway clearance techniques. It will explain the underpinning physiology for different regimens and other factors that physiotherapists consider when working with patients with PCD. The session will explore why one size does not fit all, and the challenges this poses for collecting data, either in clinical service reviews or in research. This session will be appropriate for people working within long term lung conditions. Physiotherapists are welcome to attend, however the session will be tailored to individuals who do not routinely advise patients about airway clearance techniques.

About Lynne Schofield:

Lynne is a children’s PCD physiotherapist in the UK and is currently doing a PhD. She qualified initially in Bradford, an area where PCD is more common than Cystic Fibrosis. When the English national children’s PCD management services were established in 2013, Lynne moved across to work in the North of England centre. Working with people with PCD and recognising the burden of daily airway clearance, Lynne was motivated to increase the evidence base guiding physiotherapy practice. Her initial research involved understanding the lived experiences of people with PCD and more recently, Lynne has secured funding to undertake a project exploring how the effects of airway clearance techniques are assessed in PCD.

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What is this talk about?

Diagnosing PCD relies on taking a ciliated cell biopsy from the airway epithelium that invariably is damaged by infection or inflammation. As a result, the cilia in the biopsy show features of secondary damage and their normal structure and function can be perturbed, making PCD diagnosis difficult. By eliminating infectious agents, isolating, propagating and differentiating the basal progenitor cells in-vitro, the secondary damage can be removed from the ciliated cells. This technique essentially cleanses the original biopsy. The primary air-liquid interface cell culture technique has been used to aid the diagnosis of PCD since 2007. Since then, many studies have investigated ways to improve the speed and extent of the ciliogenesis program in the cell cultures. The air-liquid interface technique, its development, advantages and pitfalls will be discussed.

About Dr Robert A. Hirst:

Principal Scientist at the Centre for PCD diagnosis and research at the University of Leicester, UK. First to prove that the air-liquid interface cell culture technique can help with PCD diagnosis and has taught the technique to many centres worldwide. Has a degree in Applied Biochemistry (Liverpool) and a doctorate in Neuropharmacology (Leicester) and has been researching motile cilia for the past 25 years. Publications include over 90 peer-reviewed research papers, many in top tier scientific journals.

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What is this talk about?

What are the psychological consequences of Primary Ciliary Dyskinesia and other respiratory diseases? What kind of psychological countermeasures can be provided to manage stress, anxiety, and for foster coping strategies? We will discuss how psychological and mind/body techniques can be an important support. One’s health isn’t just on the body level, but it is an integration of physical, psychological, and social aspects.

About Prof Francesco Pagnini:

Francesco Pagnini (Ph.D. in Clinical Psychology, Psy.D. in Integrated Psychotherapy) is a Professor of Clinical Psychology at Università Cattolica del Sacro Cuore, in Milan (Italy). For about 10 years, he worked as post-doctoral Associate at Harvard University, and has been visiting professor at Karolinska Institutet and the University of Cambridge. He is primarily interested in the study of how psychological components can influence physical aspects, with the aim to produce new psychological training that can help to change the course of physical illnesses. His work places particular emphasis on the concept of mindfulness. He has been a consultant for the European Space Agency and NASA about the application of psychological interventions for astronauts in deep space missions. Author of more than 140 articles in peer-reviewed journals, including JAMA, PNAS, Lancet Psychiatry, and Psychological Inquiry, he has received several competitive grants from national and international agencies.

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What is this talk about?

Dr Claire JAckson will be presenting on how functional cilia analysis is key to the appropriate interpretation of most PCD genetic variants. Molecular therapies are the most promising curative treatments for PCD, but we are not there yet.

About Dr Claire Jackson:

She is a Senior Research Fellow and PCD scientist at the University of Southampton, Faculty of MEdicine and NIHR Southampton Biomedical Research Center, based at the University Hospital Southampton NHS Foundation Trust. Since 2007, Dr Jackson has experience in specialist PCD diagnostics, cilia imaging and 3D nasal epithelial cell modelling. She has developped a bio-resource of rare airway samples, tested the effects of drugs, bacterial and respiratory viral infections, and was intrumental in the discovery of short ACE2 isoform in airway epithelial cells. Dr Jackson is an active member of BEAT-PCD and supported of PCD SUpport UK charity.

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What is this talk about?

Ear and sinus diseases in PCD are increasingly well-documented. However, recent reports have added knowledge of the specific features of ENT diseases in PCD. These data are useful for PCD diagnosis and need to be considered in PCD-specific management of patients.

About Prof Jean-François Papon:

Prof Papon has a PhD in respiratory physiology and is head of the ENT department in the academic hospital of Kremlin-Bicêtre, APHP, Paris-Saclay University. He is also the Vice-Chairman of the French Rhinologic Association and member of the scientific committee of the French PCD patient support group (ADCP). His department is a competence center for the diagnosis and treatment of PCD. Prof Papon has been working for 20 years on sinonasal diseases, he is a member of two research teams (INSERM- CNRS U955 and INSERM U933) working on respiratory biomechanics and genetics. Prof Papon is conducting multidisciplinary and international research on the clinical characterization of PCD disease and on genetics in PCD and chronic rhinosinusitis. He is also an active member of the international BEAT-PCD network.

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What is this talk about?

Measuring nasal nitric oxide is an important component of diagnostic testing for primary ciliary dyskinesia. Anyone taking any physiological measurement should ideally follow a standardised method, so that results are comparable between different centres. Until recently there was no international standard for measuring nasal nitric oxide in young children.

First we will present results of a global survey which demonstrated considerable variability of equipment, measurement methods and reporting. We will then discuss the recently published ERS Standards for measuring PCD in children which aims to address this problem. Our talk will be practical, with lots of examples to help you measure, interpret and report nasal nitric oxide in accordance with the ERS Standard; we’ll consider different aged children, and the commonly available analysers. We’ll aim to keep the session interactive with plenty of time for questions.

About the speakers:

Nicole Beydon and Jane Lucas led and chaired the recent ERS Task force that developed the standards for measuring nasal nitric oxide in children. Jane is Professor of Paediatric Respiratory Medicine at University of Southampton, and leads the national PCD Diagnostic service in Southampton. She also led the ERS Diagnostic Guidelines (2017) and founded and chaired BEATPCD (2014-19). Nicole is a paediatric pulmonologist involved in respiratory physiology and lung function testing for more than 10 years. She is the head of the paediatric department of Physiology-Lung function test and Sleep medicine at Armand Trousseau University Hospital in Paris. Since 2020, she is the chair of the 7.01 ERS group (Paediatric respiratory physiology & sleep).

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What is this talk about?

For this complex topic, we will have two PCD experts sharing their knowledge with us: Hannah Mitchison focusing on genotypes and Myrona Goutaki on phenotypes.

About the speakers:

Hannah Mitchison is a Professor of Molecular Medicine at University College London, working to understand the genetic basis of PCD using human genetics, model systems and functional studies, with recent focus on developing genetic therapies. Hannah leads in the UK Cilia Network, 100,000 Genomics Project GeCIP Subdomains and is a founder of the EMBO ‘CILIA’ Conference series. She co-chairs the ClinGen Motile Ciliopathy Gene Curation Expert Panel, also BEAT-PCD WP2 which aims to develop CiliaVar, the first online PCD gene variant database. She works with patient groups, including as chair of Ciliopathy Alliance and on the PCD Research science board.

Myrona Goutaki is a senior clinical epidemiologist at the University of Bern, working to understand the clinical variability and disease course of PCD, using data from collaborative cohort studies. She leads the EPIC-PCD cohort that focuses on upper airway disease and its associations with lower respiratory disease in people with PCD and several other projects, which use qualitative and quantitative methodological approaches to explore important questions raised by people with PCD and the PCD scientific community. She is the co-chair of the BEAT-PCD clinical research collaboration and the chair of the paediatric respiratory epidemiology group of the European Respiratory Society.

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What is this talk about?

We know little about fertility among people with primary ciliary dyskinesia (PCD). Prof Dr Sophie Christin-Maitre and Ms Leonie Schreck will give an overview of global infertility, its different causes and potential treatments, including the use and value of artificial reproductive technology for people with PCD and they will summarize current epidemiological evidence on the prevalence of infertility and ectopic pregnancies among people with PCD.

About the speakers:

Leonie Schreck is a medical doctor and PhD student at the University of Bern. She studies different topics important to people with PCD such as fertility, using questionnaire data directly collected from people with PCD. She manages the participatory study Living with PCD (formerly COVID-PCD) under the lead of Prof Claudia Kuehni. Living with PCD is an online study set up during the COVID-19 pandemic and enrols people with PCD from all over the world. The study team has recently sent out a fertility questionnaire to all participants and has collected information about fertility and fertility care from 384 people with PCD.

Sophie Christin-Maitre is MD, PhD, Professor of endocrinology in Sorbonne University, Paris, France. She is specialized in reproductive medicine. She is the head of the Endocrinology, Diabetes and Reproductive Medicine Unit in St Antoine hospital in Paris. She coordinates a center for patients with rare diseases, especially patients with primary ovarian insufficiency and Turner syndrome. She is vice-dean of student’s life in Sorbonne University.

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What is this session about?

During this interactive session, you will hear several interesting paediatric PCD clinical cases presented by early career researchers. For each case speakers will provide details on the patient’s present history, past history, diagnostic testing, any other relevant information and final diagnostic outcome. Throughout there will be opportunities to raise questions, make comments and discuss.

About the Expert Moderator:

The session will be moderated by Dr Guillaume Thouvenin, a Paediatric Pulmonologist involved in PCD diagnostics and treatment for more than 10 years. He coordinates the CF and Rare Lung disease Center at Armand Trousseau University Hospital in Paris. He leads the French PCD workpackage group with Prof Bernard Maitre . He is also an active management member of the international BEAT PCD network.

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What is this session about?

During this interactive session, you will hear interesting adult PCD clinical cases with exciting facts leading to final diagnostic outcome presented by Prof Bernard Maitre. As chief physician he leads the pulmonary department in Creteil, France and he is the also the national PCD coordinator for RespiRare. Bernard has been involved in PCD research and is a management member of BEAT-PCD.

About the Expert Moderator:

Natalie Lorent works as a consultant in Respiratory Medicine/Clinical Infectiology at the University Hospitals Leuven where she coordinates the care for adults with bronchiectasis and primary ciliary dyskinesia. She is also heavily involved in CF care and has a special interest in mycobacterial infections. She is an active member of the BEAT-PCD network and the focal point for ERN-LUNG for bronchiectasis and PCD at UZ Leuven.

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This is a panel discussion where we hear from an adult with PCD and a parent of children with PCD sharing their thoughts on "What's needed for multidisciplinary PCD care?". We encourage people from all backgrounds to join. There will be opportunities to raise questions, make comments and discuss. 

About the Panel:

Emilie is a patient with PCD. She is 54 and discovered her pathology at the age of 45. Since then, Emilie has actively tried to understand better PCD, to try to manage it better. Since September 2022, she has been an active board member in the French association ADCP, and is currently in charge of research. Emilie is keen to participate personally also in research on PCD and try to devote some time to it, in addition to her full-time job at the European Commission, to being a mum of 2, to manage her PCD daily and above all to living a happy life!

Fiona is Mum to two adult children who both have PCD. She chaired the PCD Support Group between 2005 and 2021 where she helped transform the care of patients with PCD in the UK and contributed to global change in diagnostics and management of PCD. She was awarded a British Empire Medal for raising awareness of PCD in the 2021 New Year’s Honours. Fiona also chaired the Respiratory Biomedical Research Patient Group at the Royal Brompton for many years.  And continues to represent patients on the Respiratory GeCip for the 100k Genomes project, European Lung Foundation,British Lung Foundation,Bronchiectasis UKas well as being  trustee of the Ciliopathy Alliance. Fiona has been a patient representative for a number of research projects and still take an active role in the following projects: Living with PCD,  the CLEAR Trial and very recently EMIRATES – a focus group for producing leaflets for thyroid cancer patients. She also regularly speaks to students about living with a genetic condition.

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What is this talk about?

We will hear about projects to improve PCD diagnostics by defining its underlying genetic causes. Two researchers involved in these developments will briefly overview the contribution of genetics to modern PCD diagnostics, and describe two important initiatives to improve genetic diagnostics: (1) the BEAT-PCD ClinGen collaboration which aims to better understand and curate the full complement of PCD genes and define what we consider a disease-causing variant; (2) CiliaVar, a freely accessible online catalogue of PCD-causing gene variants and their association with specific clinical features.

About the Speakers:

Hannah is a Professor of Molecular Medicine at University College London. Her research group uses PCD patient sequencing and functional studies to understand the molecular genetic basis of PCD, bronchiectasis and male infertility. Her lab develops PCD diagnostic gene panels and RNA-based genetic therapies for PCD. Hannah co-chairs the ClinGen ‘Motile Ciliopathy’ Expert Panel with Marie Legendre and is part of the BEAT-PCD Work Package 2 team working to develop the CiliaVar database. She is in the UK Cilia Network leadership team and is chair of Ciliopathy Alliance, interacting regularly with patient groups as a science advisor.

Mafalda is doing her PhD in the Mitchison Lab at University College London, where her research focuses on advancing the understanding of the genetic causes of PCD. Her work combines cell culture techniques and bioinformatics analyses to unravel the complex mechanisms underlying PCD. She has a background in variant and gene curation, developed through her MSc in Genomic Medicine at Imperial College London and her work experience at Genomics England and Veritas Genetics, where she analysed Next Generation Sequencing data for the diagnosis and screening of various inherited disorders.

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What is this talk about?

We will hear about innovative approaches to improve PCD diagnostics through artificial intelligence (AI) and digital tools. Two researchers involved in these efforts will briefly present the findings of a systematic review conducted by the BEAT-PCD Clinical Research Collaboration’s Work Package 7 (WP7), which identified studies using AI and/or digital-automated applications to support the screening, diagnosis, and characterization of PCD. They will also highlight other key activities led by WP7 to advance diagnostic strategies.

About the speakers:

Dr Claire Jackson has developed cilia imaging and advanced nasal epithelial cell modelling and a bio-resource of rare airway samples at Southampton since 2007. She has contributed >35 papers, 40 conference abstracts and a book chapter (>2300 citations) in PCD, ciliated epithelial cell biology and airway microbial infection. Dr Jackson’s current research is funded by Great Ormond Street Hospital Charity, Allergy Asthma & Immunology Research Charity, LifeArc and European/Italian Space Agencies. Dr Jackson leads WP7 Work Packages — BEAT-PCD  for the international ‘BEAT-PCD Clinical Research Collaboration’ network and has previously delivered expert Training — BEAT-PCD, and spoken at the British Thoracic Society Winter Meeting and University College London Rare Ciliopathies Symposium. She also supports patient education initiatives provided via PCD Support UK PCD Live!. 

Dr Panayiotis Kouis is a visiting Lecturer and a member of the Respiratory Physiology Laboratory at the Medical School of the University of Cyprus. He has been involved in PCD diagnostic testing since his PhD studies, and he is now co-chairing the BEAT-PCD WP7. He has background in evidence synthesis methodologies such as systematic review, meta-analysis and cost-effectiveness analysis, and participated in the development and adaptation of guidelines in the field of PCD and elsewhere. Dr Kouis recently delivered an WP7 ERS task force collaborative project to develop PCD patient/carer information on nasal nitric oxide testing for clinic distribution and patient support groups, based on the newly published standards Nasal nitric oxide measurement in children for the diagnosis of primary ciliary dyskinesia: European Respiratory Society technical standard - PubMed. Panayiotis is currently developing multiple translations for wider clinical use in collaboration with patient support groups worldwide.

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What is this talk about?

Lucy Dixon, volunteer and past chair of PCD support UK and member of the BEAT-PCD management committee, and Myrona Goutaki, researcher and co-chair of BEAT-PCD take the opportunity to discuss about partnerships between researchers and people living with PCD, as part of the PCD awareness month 2025. Patient involvement is nowadays a focal point in health research. Although much progress has been made to set up a good framework and encourage active involvement and engagement of people with lived experiences in research, we still need to take further steps to achieve meaningful partnerships. In this webinar, the two speakers, who have collaborated on several projects, including the participatory Living with PCD study and an international survey on patient priorities for PCD research, discuss the value of patient engagement and involvement to the researchers and to the patient partners, share their experiences, and give advice on how to improve collaborations between patients and researchers and on selecting and maintaining patient partners in PCD research.

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The EPIC-PCD (Ear-Nose-Throat Prospective International Cohort of Patients with PCD) study is an international initiative to better understand upper airway disease in PCD. Established by Prof Goutaki in 2020, EPIC-PCD currently includes over 500 patients of all ages from 15 centres in 11 countries. The study examines the manifestation of upper airway disease in different ages, its prognosis over lifetime, and its relationship with lower airway disease in patients with PCD. Integrated into routine clinical care, it collects standardised baseline and follow-up data both from clinical examinations and directly from patients or parents of children with PCD. The speakers will discuss the study’s setup, progress, key findings, and future plans.

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The PROVALF-PCD (Prospective Observational Multicentre Study on Variability of Lung Function in Stable PCD Patients) study is a multicentre, longitudinal project designed to better understand how lung function naturally changes over time in people with PCD. The cohort includes 252 patients recruited from 19 centres across 12 countries, making it one of the largest collaborative efforts in this rare disease. Over the course of the study, we collected over 1,000 FEV1 measurements from patients in stable state, during routine clinical follow-up, spanning a period of 15 months.

The study examined the extent and patterns of natural changes in lung function within each person, when these changes can be considered physiologically relevant, and what this might mean for disease monitoring, treatment decisions, and clinical trial design. In this talk, I will discuss how PROVALF-PCD provides insights that are relevant for patients, in understanding their own health journeys, for clinicians, in shaping management strategies, and for researchers, in designing future studies.