The Genetics of Cholesteatoma
Research type
Research Study
Full title
An Analysis of the Pedigrees and Genetic Profile of Patients and Families of Patients with Cholesteatoma
IRAS ID
186786
Contact name
Peter Prinsley
Contact email
Sponsor organisation
University of East Anglia
Duration of Study in the UK
1 years, 11 months, 27 days
Research summary
A clinical observation that a form of ear disease called cholesteatoma appears to run in families has been made in East Anglia. Cholesteatoma is chronic and potentially serious cause of deafness where there is destruction of the delicate structures of the ear and is treated by ear surgery. We are seeking to identify family pedigrees and subsequently to collect blood samples for genetic analysis. The aim of this study is to identify a genetic basis for the disease. We will identify families from clinical records and through the network of the British Society of Otology. We will approach these families to ask for their consent to provide family trees and subsequently blood samples. The latter will be used for a form of analysis known as genome sequencing which will provide information on any any significant variants that are associated with the clinical trait.
REC name
East of England - Cambridge Central Research Ethics Committee
REC reference
16/EE/0131
Date of REC Opinion
22 Jun 2016
REC opinion
Further Information Favourable Opinion