Research: primary ciliary dyskinesia (PCD)
Southampton has an active research programme investigating primary ciliary dyskinesia (PCD). Our research focuses on understanding the natural progression and underlying cause of PCD, as well as offering new diagnostic and treatment options. Because PCD is a rare disease and no centre has huge numbers of patients, we collaborate with PCD researchers in the UK, Europe and North America.
Why is PCD research important?
PCD is still a relatively new disease and diagnostic facilities have only been available for approximately ten years in the UK. Research is needed to advance our understanding of PCD and allow new, potentially more effective treatments to be developed. To date, no treatments have undergone formal testing in patients with PCD. Most treatment is based on research in other diseases such as cystic fibrosis. In Southampton, research studies are an integral part of the care we deliver; we offer all patients referred to the PCD service the opportunity to participate in research studies.
What happens in a research study?
Prior to your hospital appointment you will be sent written information about the study and the options available to you. At the clinic you will have the opportunity to discuss research with the PCD team. If you wish to participate you will be asked to sign a consent form, indicating you understand the study and would like to take part. You are always free to change your mind.
Current PCD research
We have a number of studies at any one time that you might be invited to take part in; current research includes:
Clinic based studies
We invite all patients with PCD to allow us to use the data we collect as part of their routine care, for research purposes. For example we are investigating how lung function changes with age, and how sputum bacteria change over time. If you consent to this research, your clinical information will be added to a research database. Your name will not be included and you will be known by an identification number - nobody outside the PCD team will be able to identify you in any way.
Once samples have been used to diagnose whether you have PCD, with consent we use remaining cells to understand how the cells and cilia of patients with PCD differ from healthy individuals. If you are found not to have PCD your cells can be used to help us understand how cilia work and how they help prevent infection. In the laboratory we are also investigating the bacteria in sputum that cause chest infections, with the hope that we can learn how to prevent or manage infections. Only half of the genes that cause PCD have been identified, and you may be invited to have a blood test to help identify genes that are yet to be discovered.
Questionnaire based studies
Southampton is taking the lead in a large EU study (BESTCILIA) to develop questionnaires that can be used to monitor disease progression or response to new treatments. The study includes interviewing patients and their families to explore their perception of quality of life, attitudes to treatment and their understanding of their condition. Once the prototype questionnaires are developed we will ask patients and families’ help to ensure the questionnaires are clear and effective.
Participation in a research trial
Research trials allow us to investigate whether a particular treatment is beneficial in PCD. For example, whether taking a regular low-dose antibiotic helps prevent exacerbations. These studies require very close monitoring and you will usually need to be seen at the hospital outside your routine visits. We are also investigating new diagnostic methods alongside our existing techniques in an attempt to improve our accuracy and turn-around time of results.
The PCD team will be able to discuss if any of our studies are suitable for you at your next clinic visit. Routinely, we have research studies suitable for almost every patient referred to our service. The research team will also be happy to discuss any of our studies with you.