Swiss Lung Association grant on phenotypes of Primary Ciliary Dyskinesia

Eva Pedersen

09.07.2021 – Eva Sophie Lunde Pedersen has been awarded a grant from the Swiss Lung Association to identify phenotypes of primary ciliary dyskinesia and study their association with genotypes and disease progression using longitudinal data from a large international study.

Primary ciliary Dyskinesia (PCD) is a rare disease characterised by defective function of cilia transporting mucus from the lungs, sinuses, and middle ears. It is caused by mutations in more than 50 genes which leads to a highly heterogeneous disease. The broad variability in symptoms suggests that the PCD patient population is not homogeneous but consists of different subtypes, also called phenotypes. Eva aims to identify phenotypes of PCD and study their association with genotypes and disease progression.

She will use data from COVID-PCD, an international participatory research study that was set up in Spring 2020 in collaboration with PCD patient support groups from all over the world. COVID-PCD includes almost 700 people with PCD aged 0-85 years from 47 countries. Participants complete a comprehensive questionnaire on symptoms and well-being at registration and are followed up via short weekly online questionnaires. By July 2021, most participants have been followed for a year. Eva will use data from the baseline questionnaire to identify phenotypes of PCD and use data from the weekly follow-up questionnaires to study associations with disease progression.

The project is novel as it uses data from the largest cohort to date that collects data on symptoms directly from people with PCD all over the world. This project, and the identification of PCD phenotypes, will contribute to developing targeted therapies adapted to individual patients and thus to improve long-term outcomes.