Improving the diagnosis of primary ciliary dyskinesia
Research type
Research Study
Full title
Assessment of diagnostic investigations in the rare inherited disease primary ciliary dyskinesia
IRAS ID
207436
Contact name
Claire Hogg
Contact email
Sponsor organisation
Royal Brompton & Harefield NHS Foundation Trust
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Primary Ciliary Dyskinesia (PCD) is an inherited condition diagnosed by the examination of cells under a powerful electron microscope and expensive video microscopes. In 30% of children who have PCD the cells look normal and in a further 25% there are not enough healthy cells to decide on a diagnosis. The purpose of this study is to see how useful new methods and exsisting methods are in making a diagnosis. Due to the rare and complex nature of PCD our group has used many techniques to help make a diagnosis in the past. We now wish to review the data from these tests to assess their accuracy. We wish to see if factors such as bugs and inflammation in the lungs affect these tests. We also wish to conduct further new tests based on antibodies on left over samples from patients who have been investigated for PCD.
REC name
East of Scotland Research Ethics Service REC 2
REC reference
16/ES/0073
Date of REC Opinion
2 Jun 2016
REC opinion
Favourable Opinion