The PCD diagnostic service at Royal Brompton Hospital has been nationally funded since 2006 and sees around 400 patients each year.
The National PCD service for diagnostics and management of the disease now provides specialist care for over 1,000 patients with PCD, free at the point of access. Any patient suspected of having PCD can be referred to Royal Brompton, which is one of three diagnostic centres; the other two are Southampton General Hospital and Leicester Royal Infirmary. Around 100 patients per year receive a positive diagnosis.
The National PCD management service has been established since 2012 and its success has led to a successful bid for a nationally commissioned service in three other centres across England, at the above three diagnostic centres, as well as a fourth centre in Leeds and Bradford.
Patients are referred following a positive diagnosis, or where a pre-existing diagnosis has been confirmed. Every patient has annual assessment, and follow up in one of the centres, or at their local hospital where a visiting MDT outreach service exists.
Any patient can be referred to the national service, which is free to all providers. Patients may also self refer, although we encourage referral via your GP or local consultant to allow shared care from the outset. We also receive referrals direct from other specialists in respiratory medicine, ENT, cardiology, neonates, fertility clinics and clinical genetics.
The team works with local hospitals and schools to provide them with an understanding of the condition and how to manage it. Each team also has an outreach service that includes home and school visits to help support families with the burden of treatment needed at home and at school.
There is currently a significant need for research to better understand and manage the disease. BESTCilia is the largest international research programme focused on PCD. Researchers are investigating the patterns and causes of the disease as well as the clinical progression and evaluate new treatments for the condition.
In 2014, Dr Amelia Shoemark, a cell culture scientist, was awarded a three-year postdoctoral fellowship from the NIHR / Health Education England Healthcare Science Research Fellowship Programme.
Her work investigates new diagnostic tools for PCD and will test new microscopy methods, electron tomography and immunofluorescence techniques to better diagnose the disease, based on the appearance of the cilia. If successful the project will lead to the integration of these techniques into the UK NHS diagnostic service for PCD.
Longstanding collaboration with the clinical genetics team at Institute of Child Health at UCL has led to rapid developments in gene discovery and the development of a PCD gene panel ready for clinical use as a diagnostic test.
We will continue to collaborate for further gene discovery, and also to better understand the exact structural and functional impact of the various mutations in PCD. Our tomography and immunoflourescent research programmes have helped define previously unknown structural defects in mutations such as the hydin mutation, helping us better understand the exact pathophysiological impact of the disease causing mutations.