A genetic study of audiovestibular and ocular disease- version 1
Research type
Research Study
Full title
A genetic study of audiovestibular and ocular disease
IRAS ID
268894
Contact name
Robert Henderson
Contact email
Sponsor organisation
UCL Institute of Child Health
Duration of Study in the UK
4 years, 0 months, 1 days
Research summary
Families with a known or suspected inherited eye and/ or ear condition attending the outpatient department at Great Ormond Street Children’s Hospital (GOSH) or Moorfields Eye Hospital (MEH) will be invited to take part in this study. The aim is to further understand the medical features, associations, complications and disease trajectory of inherited eye and/ or ear disease. We want to know more about the natural history of these diseases at earlier time points. Treating earlier in the disease process is almost always thought to be advantageous, but the early presentation of these conditions in children and resulting difficulty with examination, has meant there is a dearth of useful clinical phenotypic information early in disease. We are uniquely positioned to change this.
Performing deep phenotyping at younger ages will allow us to identify useful clinical end points and establish well characterised patient cohorts that could be invited to participate in therapeutic trials. Gene therapy, small molecule interventions and stem cell treatments are some of a burgeoning number of treatment possibilities and in order to take part in university based and commercial trials, there is an imperative to have well worked up, tightly defined cohorts of patients with genetic disease. Where the genetic diagnosis remains unknown, we will harness the power of the latest genetic technologies including whole genome sequencing to maximise diagnostic rates and anticipate the discovery of novel genetic causes.
Following informed consent, affected family members will undergo visual, hearing and balance tests in clinic and may require follow-up appointments. DNA will be extracted from blood or saliva samples, and RNA extracted from blood or other tissue samples for genetic testing. We anticipate this to be a lifetime observation and laboratory study to detail the natural history of these conditions.
Participants will stay in the study whist under our care.
REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
22/WM/0080
Date of REC Opinion
23 Aug 2022
REC opinion
Further Information Favourable Opinion