Stickler Syndrome and Perthes disease 1.0
Research type
Research Study
Full title
What is the association between Stickler Syndrome and Legg-Calve-Perthes disease?
IRAS ID
265012
Contact name
Philip Alexander
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust
Duration of Study in the UK
1 years, 0 months, 1 days
Research summary
Stickler Syndrome is a disease affects eyes, joints, hearing and face. Perthes disease (Legg-Calvé-Perthes Disease) represents the unorganised cell death of most cells of the femoral head in children caused due to lack of blood supply, which itself is due to an unknown cause. In this study, we will report a novel association between Stickler Syndrome and Perthes disease. Patients with a history or clinical features of Perthes disease will be recruited to the study through the National Diagnostic Stickler Syndrome Service based at Addenbrookes Hospital, Cambridge. Additionally, the Stickler Syndrome Support Group intends to conduct a systematic nationwide survey to ascertain how many patients with Stickler Syndrome, within it’s members, have a concurrent diagnosis of Perthes disease. This survey will not be conducted by the research group but will be conducted by the Stickler Support Group (an independent support group), for their own records. If Stickler patients who have been given a past diagnosis of Perthes disease give their permission, then their information will be forwarded to the research team in Addenbrookes (Stickler Syndrome Support Service). These patients will also be recruited into the study.
Selected patients will have their radiographs will be obtained from other hospitals if necessary. Radiographs will be reported by a radiologist specialising in skeletal dysplasia, to radiologically confirm the diagnosis of Perthes disease. Evidence from the radiographs of the affected patients will used to report the association. We hope to consolidate a series of case reports.REC name
London - West London & GTAC Research Ethics Committee
REC reference
20/LO/0189
Date of REC Opinion
7 May 2020
REC opinion
Further Information Favourable Opinion