Pediatric Respiratory Epidemiology Group

International Primary Ciliary Dyskinesia (iPCD) Cohort

Claudia Kuehni, Myrofora Goutaki, Eva Pedersen, Yin Ting Lam

The iPCD Cohort was established under the framework of the European Union’s Seventh Framework Program (EU FP7) project BESTCILIA (Better Experimental Screening and Treatment for Primary Ciliary Dyskinesia-/2012-2016) and further developed in the BEAT-PCD COST Action (BM1407). It aims to identify and assemble all available datasets with clinical and diagnostic data from PCD patients worldwide to answer questions on clinical phenotype, disease severity, prognosis, and effect of treatments in patients with this rare multiorgan disease. It is an international cohort with retrospective and prospective design, combining available data on PCD from national or local registries and clinical or diagnostic databases. This combined international dataset allows investigation of PCD epidemiology in a large international study population in order to: 1) describe the spectrum of clinical phenotypes and disease severity in PCD patients by age, sex and time period of diagnosis; 2) describe short-term and long-term prognosis of PCD, looking at important outcomes such as growth, lung function and respiratory failure, bacterial colonisation, hearing loss, fertility, and mortality; and 3) identify predictors of long-term outcomes such as age at diagnosis, clinical phenotype, ultrastructural defects, genotype, environmental exposures and clinical care. The project is funded by the Swiss National Science Foundation (SNF 320030B_192804)

Swiss Registry for patients with Primary Ciliary Dyskinesia (CH-PCD)

Claudia Kuehni, Myrofora Goutaki, Eva Pedersen, Yin Ting Lam, Helena Koppe

The CH-PCD collects epidemiological and clinical information from all patients diagnosed with PCD in Switzerland. It contributes to our understanding of the epidemiology of this orphan disease, clinical course, health care and quality of life, and can serve as a sampling frame for clinical studies. Anonymous data can be shared with the iPCD cohort study, the international PCD Registry, and other multicentre studies.

COVID-19 infections in people with Primary Ciliary Dyskinesia (COVID-PCD)

Claudia Kuehni, Eva Pedersen, Myrofora Goutaki

COVID-PCD is an international anonymous online survey on incidence and course of COVID-19 in people with PCD which makes results available in real time. It is a participatory project where people who have PCD have an essential vote in all stages of the research from the design of the study, to recruitment of participants, and interpreting and communicating results. The study includes persons of any age from anywhere in the world with reported PCD. It is advertised through patient support groups, and participants register online on the study website (www.covid19pcd.ispm.ch) where they read the study information and give digital consent. A baseline questionnaire assesses details on the PCD diagnosis, habitual symptoms, and COVID-19 infections that occurred before study entry. During the follow-up, participants receive a short weekly questionnaire with questions on incident SARS-CoV-2 infections, current symptoms, social contact behaviour, and lifestyle. Occasional thematic questionnaires focus on emerging questions of interest related to COVID-19 such as use of face masks or psychosocial effects of the pandemic. Results are continuously analysed and summaries are available online. The study was approved by the cantonal ethics committee of Bern (2020-00830).

ENT prospective international cohort for people with Primary Ciliary Dyskinesia (EPIC-PCD)

Myrofora Goutaki, Yin Ting Lam

EPIC-PCD is a prospective multi-centre cohort embedded in routine clinical care in collaboration with several European PCD centres. It aims to characterise ENT (ear, nose, throat) disease in PCD patients of all ages, study how this is associated with lower respiratory disease, and identify determinants of disease prognosis. The study collects data on symptoms from patient and parental questionnaires and medical data from hospital records, using the standardised FOLLOW-PCD form and questionnaire. The project is funded by an Ambizione grant from the Swiss National Science Foundation (SNF PZ00P3_185923).

BEAT-PCD Clinical Research Collaboration

Myrofora Goutaki, Claudia Kuehni, Yin Ting Lam, Eva Pedersen

The BEAT-PCD Clinical Research Collaboration (CRC) is a network of multidisciplinary researchers and clinicians and was funded in 2020 by the European Respiratory Society. The network is coordinating research from basic science to clinical care, with the ultimate goal to improve diagnosis and develop treatments that lead to improvements in long-term outcome of patients with PCD. M. Goutaki co-chairs the network, C. Kuehni is a member of the management committee and Y. Lam a PhD representative at the advisory board.

Swiss Pediatric Airway Cohort (SPAC)

Claudia Kuehni, Cristina Ardura-Garcia, Christina Mallet, Eva Pedersen, Myrofora Goutaki

The SPAC is a prospective clinical cohort study with a national multicentre set-up. The study includes children aged 0-16 years who are referred to a respiratory outpatient clinic for wheeze, recurrent cough, exercise- and sleep-related respiratory problems, or other nonspecific respiratory symptoms. It collects data on symptoms, health behaviour and environmental exposures through parental questionnaires and extracts medical data from outpatient hospital records. This includes clinical test results (e.g., lung function, allergy tests) and information on treatment and diagnosis. Patient recruitment began in 2017 and currently includes over 2500 children from pulmonary outpatient clinics in Aarau, Basel, Bern, Chur, Horgen, Lausanne, Luzern, St. Gallen, Worb and Zurich, and from Vienna, Austria. SPAC aims to describe the spectrum of respiratory symptoms and problems, to document diagnostic practices, treatments, and preventive measures prescribed in the clinics, and to study long-term outcomes. The project is funded by the Swiss National Science Foundation (SNF 320030_182628).

LuftiBus in the school (LUIS)

Claudia Kuehni, Rebeca Mozun, Cristina Ardura-Garcia, Myrofora Goutaki.

LUIS is a cross-sectional and school-based study on the respiratory health of 6 to 17-year-old children in collaboration with the Children’s hospital in Zurich and Bern. A bus with equipment for lung function testing visited numerous schools across the whole canton of Zurich, Switzerland, in 2013-16. The study collected information from questionnaires to parents and children on upper and lower respiratory symptoms, asthma diagnosis and treatment, and lifestyle characteristics like smoking, and gathered results from several lung function and airway inflammation measurements to children. The project is funded by Lunge Zürich and the Swiss National Science Foundation (SNF 320030_173044).

European Respiratory Society Taskforce for the diagnosis of asthma in children aged 5 to 16 years

Claudia Kuehni, Myrofora Goutaki, Rebeca Mozun, Carmen de Jong

This taskforce of the European Respiratory Society (ERS) is developping a clinical practice guideline to improve the diagnosis of asthma in school-aged children.

Surveillance of Cystic Fibrosis (CF) newborn screening

Claudia Kuehni, Eva Pedersen

Newborn screening for CF was introduced in Switzerland in 2011. The performance of the national screening program is continuously evaluated in a database hosted by ISPM Bern.

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Please note that only members of staff of ISPM Bern are listed.

Observational trials in primary ciliary dyskinesia (WP1, BESTCILIA)

Claudia Kuehni, Myrofora Goutaki, Elisabeth Maurer, Florian Halbeisen

This project was part of BESTCILIA, an EU FP-7 project that aimed to characterise the clinical course of PCD and to improve diagnosis and treatment. Work package 1, led by ISPM Bern, identified, collected and analysed datasets on PCD patients from national registries or observational studies. With the resulting meta-cohort it is possible to i) describe the clinical presentation, growth and lung function over the course of life, ii) evaluate diagnostic examinations and evaluate treatments in use, and iii) evaluate long-term prognosis.

We were also involved in BESTCILIA work packages WP2 (development of an international PCD registry), WP4 (development of a PCD-specific health-related quality of life instrument) and WP5, the first randomised controlled trial (RCT) in PCD patients.

European Respiratory Society Taskforce: Diagnosis of primary ciliary dyskinesia (PCD) in the molecular age: a practice guideline for diagnosing patients with PCD

Claudia Kuehni, Myrofora Goutaki
This taskforce of the European Respiratory Society (ERS) developed a clinical practice guideline to improve the diagnosis of PCD.

Defining phenotypes and risk factors of chronic non-specific cough in childhood

Claudia Kuehni, Maja Jurca, Ben Spycher, Myrofora Goutaki

This PhD project focused on the epidemiology of chronic and recurrent cough in childhood by analysing original data from the Leicester respiratory cohorts and the BILD cohort, and by summarising the current evidence in systematic reviews. The project was funded by the Swiss National Science Foundation (SNF PDFMP3_137033).

Breastfeeding and respiratory outcomes from infancy to school-age: pathways and temporal sequence

Claudia Kuehni, Jingying Wang, Myrofora Goutaki

This SNF-funded project investigated the association between breastfeeding and respiratory outcomes from infancy to school age by performing systematic reviews and analysing original data from the Leicester respiratory cohorts, the Swiss BILD cohort and international cohort studies. The project was funded by the Swiss National Science Foundation (SNF 32003B_144068).

Predicting onset and persistence of wheeze in children

Claudia Kuehni, Aniña Pescatore, Ben Spycher

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Alveolar growth and development in childhood measured by helium-3 magnetic resonance

Claudia Kuehni

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Primary Ciliary Dyskinesia in Children: a European survey

Claudia Kuehni, Marie Pierre Strippoli, Elisabeth Maurer

Please note that only members of the ISPM Bern staff (past and present) are listed.