Paediatric Granulomatous Arthritis Outcome Cohort Study
Research type
Research Study
Full title
Pediatric Granulomatous Arthritis (Blau syndrome) Outcome Cohort Study
IRAS ID
130650
Contact name
Catherine Guly
Contact email
Sponsor organisation
University Hospital Leuven
Duration of Study in the UK
5 years, 6 months, 28 days
Research summary
People with Paediatric Gramulomatous Arthritis (Blau Syndrome) have an abnormality in a gene called the NOD2 gene. The NOD2 gene has only recently been discovered and the disease is rare, so we do not fully understand the mechanism of how and why people with Blau Syndrome develop inflammation and the long term outcome for people with Blau Syndrome.
The purpose of this study is to collect detailed information about the health of people with Blau Syndrome through an examination of the eyes and joints, and special questionnaires. We will also obtain blood samples from people with the disease and extract Ribonucleic acid (RNA) to try to determine how the NOD2 gene causes problems such as inflammation in the eyes (uveitis), inflammation in the joints (arthritis) and skin rashes. We will also collect urine samples. The blood and urine will be stored in a laboratory called a tissue bank.
If the patient needs to have a joint injection or an operation during the course of the study we may ask for permission to take a sample of joint fluid or a biopsy sample that is taken at the time of the procedure to be stored for the study. We will not perform any joint injections or operations for the purpose of the study.
REC name
North West - Preston Research Ethics Committee
REC reference
15/NW/0689
Date of REC Opinion
18 Aug 2015
REC opinion
Favourable Opinion