Characterization of Urinary Cathepsin C in Papillon-Lefevre Syndrome
Research type
Research Study
Full title
Characterization of Urinary Cathepsin C in patients with Papillon-Lefevre Syndrome
IRAS ID
161326
Contact name
Celia Moss
Contact email
Sponsor organisation
INSERM U-1100 (National Institute of Health and Medical Research)
Duration of Study in the UK
0 years, 9 months, 0 days
Research summary
The aim of this project is to develop a new test to diagnose the condition Papillon-Lefevre syndrome (PLS). This is a rare genetic disorder characterised by skin thickening and infections and severe dental disease leading to loss of teeth in childhood.
The National Institute of Health and Medical Research (INSERM) based in France is undertaking research to analyse a protein called cathepsin C (dipeptidyl peptidase I) in the urine of patients with Papillon-Lefevre Syndrome. The aim of the research is to to establish a new non-invasive diagnostic method for this disease. The study involves collecting and testing 100 ml of patient urine to assess the presence of cathepsin C. The group wish to collaborate with us on this project. The study has been given ethics approval in France and is already underway. The group would like to collect more samples from PLS patients, and would like us to collect urine samples from patients seen at Birmingham Children's Hospital which can be sent to them for testing. The samples will be anonymous and will only be used by qualified personnel.REC name
Yorkshire & The Humber - Leeds East Research Ethics Committee
REC reference
15/YH/0138
Date of REC Opinion
26 Mar 2015
REC opinion
Favourable Opinion