Genetic markers of slipped capital femoral epiphysis
Research type
Research Study
Full title
Genetic markers of slipped capital femoral epiphysis
IRAS ID
124044
Contact name
Manoj Ramachandran
Contact email
Sponsor organisation
Barts Health NHS Trust
Research summary
Slipped capital femoral epiphysis (SCFE) is an adolescent hip disorder which results in the displacement of the head from the neck of the femur through the growth plate. Cases can be unilateral or bilateral and affect about 1/100,000 children aged between 8-16. Once the diagnosis of surgery is made, surgery is always required to prevent further slippage and/or to reduce the slipped femoral head. The surgery is easier and the prognosis better in early mild cases; therefore, early diagnosis is crucial.
Children are more likely to be male and obese and certain hormonal imbalances can predispose to the development of SCFE. The underlying cause however remains unknown. Clusters of SCFE within families and identical twins have pointed towards a genetic cause. Studies to date have limited numbers and have only tested very small sections of the genome, and as yet, they have been unsuccessful in finding a gene or genes common to the majority of cases.
The aim of this study is to conduct a genetic screen of children to try and identify a robust genetic marker for the development of this serious rare disease. Through a small sample of saliva exome and genome wide sequencing can be performed. A genetic marker or markers could help develop treatment, screen at risk groups and by providing early diagnosis, improve outcome.REC name
London - Stanmore Research Ethics Committee
REC reference
14/LO/0515
Date of REC Opinion
22 May 2014
REC opinion
Further Information Favourable Opinion