Publications

Summary: People with primary ciliary dyskinesia (PCD) can have issues conceiving. It is unclear how many with PCD struggle to have children, and how many are able to have children with help. We also do not know if women with PCD tend to have more ectopic pregnancies (pregnancies outside of the uterus) than the general population. We wanted to know the answers to these questions. Continue reading

Full article under: https://www.medrxiv.org/content/10.1101/2024.04.09.24305388v1
Published in April 2024


Summary: It is important to understand the role of specific genetic mutations (changes in the DNA) in primary ciliary dyskinesia (PCD). If we better understand which mutations lead to which symptoms, people can get access to the appropriate treatment depending on their genetic type of PCD. We studied how the more than 50 different genes that cause PCD relate to self-reported symptoms and characteristics such as age of PCD diagnosis and laterality defects (one or more organs situated in the wrong side of the body).
Continue reading

Full article under: https://www.medrxiv.org/content/10.1101/2023.11.28.23299010v1
Published in November 2023


Fertility care among people with primary ciliary dyskinesia

Summary: People with primary ciliary dyskinesia (PCD) can have problems having children. It is important that they are informed about these problems before trying to have children and that they receive information about family planning options if needed. This is also referred to as fertility care. It is unclear how many people with PCD have received fertility care. We therefore wanted to know how many people with PCD had ever visited a doctor who specializes in fertility, and at which point in their life. We also wanted to know how many had received information about fertility and if they were satisfied with the information. Continue reading

Full article under: https://www.medrxiv.org/content/10.1101/2023.07.04.23292228v1
Published in July 2023


Diagnostic testing in people with primary ciliary dyskinesia: an international participatory study

Summary: Primary ciliary dyskinesia (PCD) can be diagnosed with different tests, such as measuring a special gas in the nose, the so-called nasal nitric oxide (nNO) test, examining cells taken from inside the nose under the microscope (biopsy), or genetic tests looking for a defect that causes PCD. This diagnosis usually requires several tests, but in some individuals the diagnosis can be confirmed by genetic testing or biopsy. However, a combination of tests is necessary to define different types of PCD, which may require different treatment plans and monitoring. This knowledge is also important for developing personalized treatments and participating in clinical trials. We wanted to find out which diagnostic tests people with PCD have had, and possible explanations why some people have tests done and others not. Continue reading

Full article under: https://journals.plos.org/globalpublichealth/article?id=10.1371/journal.pgph.0001522
Published in September 2023


Incidence and severity of SARS-CoV-2 infections in people with primary ciliary dyskinesia

Summary: At the beginning of the COVID-19 pandemic, many were concerned that people with PCD  might have more severe symptoms than the general population if infected with SARS-CoV-2. SARS-CoV-2 is the virus causing COVID-19 disease. We wanted to find out how many people with PCD were infected with SARS-CoV-2, how severe their symptoms were, and whether infections and symptoms were related to age, vaccinations, and COVID-19 variants of concern. We therefore set up the COVID-PCD study alongside people who have PCD. Continue reading

Full article under: https://www.ssph-journal.org/articles/10.3389/ijph.2023.1605561/full
Published in August 2023


COVID-19 vaccinations: perceptions and behaviours in people with primary ciliary dyskinesia

Summary: Vaccinations against COVID-19 can prevent the spread of the disease and can protect against severe symptoms in case of infection. People with primary ciliary dyskinesia (PCD) may be at higher risk of severe COVID-19 disease and are therefore strongly recommended to get vaccinated. Here, we studied how many people with PCD got vaccinated against COVID-19, how fast people got vaccinated in different countries, and which side effects people with PCD experienced after vaccination. Continue reading

Full article under: https://www.mdpi.com/2076-393X/9/12/1496
Published in December 2021


Facemask usage among people with primary ciliary dyskinesia during the COVID-19 pandemic: a participatory project

Summary: Facemasks that cover nose and mouth can prevent the spread of COVID-19. They are particularly important for preventing infections in people with a chronic disease such as primary ciliary dyskinesia (PCD). PCD causes chronic symptoms such as cough, runny nose, and difficulty breathing. These symptoms might make it uncomfortable for people with PCD to wear a facemask and it is important to find out if people avoid wearing facemasks. Here, we studied if people with PCD wear facemasks in public and whether their symptoms made it difficult. Continue reading

Full article under: https://www.ssph-journal.org/articles/10.3389/ijph.2021.1604277/full
Published in December 2021


SARS-CoV-2 infections in people with primary ciliary dyskinesia: neither frequent, nor particularly severe

Summary: People with chronic diseases are at higher risk of severe COVID-19, the disease caused by a virus called “severe acute respiratory syndrome coronavirus 2” (SARS-CoV-2). Primary ciliary dyskinesia (PCD) is a rare chronic disease, and it is important to find out if people with PCD are also at higher risk of severe COVID-19. Here we studied how many people with PCD got infected with SARS-CoV-2 and how ill they got. Continue reading

Full article under: https://erj.ersjournals.com/content/58/2/2004548
Published in August 2021


COVID-PCD: a participatory research study on the impact of COVID-19 in people with primary ciliary dyskinesia

Summary: People with chronic diseases are at higher risk of severe COVID-19 disease. Primary ciliary dyskinesia (PCD) is a chronic disease, but we do not know if people with PCD are at higher risk of severe COVID-19. To find this out, we set up the COVID-PCD study together with PCD support groups worldwide. We want to find out how many people with PCD get COVID-19 and how sick they become. Continue reading

Full article under: https://openres.ersjournals.com/content/7/1/00843-2020
Published in March 2021