Screening for Stickler Syndrome in Children Diagnosed with Perthes
Research type
Research Study
Full title
A Cross-sectional Study Screening for Stickler Syndrome in Children Diagnosed with Perthes Disease
IRAS ID
343181
Contact name
Martin Snead
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and University of Cambridge
Duration of Study in the UK
1 years, 7 months, 19 days
Research summary
Stickler Syndrome is a genetic condition passed down directly from parents to their children that affects collagen, the main protein involved in the bodies' connective tissues. By weakening the connections between structures in the body, patients with Stickler syndrome suffer from joint, palate (roof of the mouth), hearing and eye problems. In particular, patients with the most common type 1 Stickler syndrome develop retinal detachment, a tear/rip in the back of the eye, causing sight loss and potential blindness. Whilst there is a treatment to prevent this retinal detachment, we must find ways to diagnose patients earlier to offer this treatment before they lose their sight.
Amongst the patients with Stickler syndrome referred to our specialist team in Cambridge from across the UK & Ireland, we have found a number that have previously been diagnosed with Perthes disease. This is a separate rare disease that causes breakdown of the hip joint, and occurs in childhood, before the typical age of retinal detachment in Stickler syndrome. Thus, our study proposes to create a screening tool that can identify the most important medical and family history associated with Stickler syndrome. We will create this screening tool using our current knowledge of Stickler syndrome, and by testing it in patients already diagnosed with Stickler syndrome compared to children without. Once the screening tool is finalised, we will use it in group of children with Perthes disease in Liverpool, to see if any patients have signs of Stickler syndrome in their family. We will then genetically test these Perthes disease patients to see if any have Stickler syndrome and thus if our screening tool identified them before the test. If successful, this screening tool could then be used clinically to diagnose patients earlier and offer treatment to prevent retinal detachment before it causes sight loss.
REC name
North West - Greater Manchester West Research Ethics Committee
REC reference
25/NW/0104
Date of REC Opinion
28 Mar 2025
REC opinion
Favourable Opinion