Hearing, middle ear and balance function in Stickler Syndrome (COL9)
Research type
Research Study
Full title
An assessment of the auditory, middle ear and vestibular function in Type IX collagen (COL9A1, COL9A2 and COL9A3) recessive Stickler syndrome (SS), as measured with pure tone audiometry, tympanometry and video head impulse testing (vHIT)
IRAS ID
336962
Contact name
Charlotte Skipper
Contact email
Sponsor organisation
Cambridge University NHS Hospital Trust
Duration of Study in the UK
1 years, 2 months, 1 days
Research summary
To investigate the effect of Stickler Syndrome (COL9) on hearing and balance function. The Stickler syndromes (SS) comprise group of related connective tissue disorders, known to affect the inner ear with links to hearing loss well established. There is a gap in published data on any relationship between Stickler syndrome and balance function, in spite of this known involvement of the inner ear. This particular subset of Stickler Syndrome, affecting Collagen type 9, has only recently been identified and only in a small subset of patients (approximately 20). Patients with Sticklers syndrome COL9, visiting the Vitreoretinal Service at Addenbrooke’s Hospital will be invited to have their hearing, middle ear and balance function measured in the Audiology clinic. For this, patients will undergo a hearing test in a sound-treated room and a test to measure how well their ear drum is working, using a pressure test (tympanometry). Patients would then undergo a video head impulse test (vHIT), whereby they sit in a chair whilst we make small quick movements of their head whilst recording their eye movements using a video headset, as the speed of eye movements are linked to the function of the balance system. The data will be analysed to improve the understanding of how Stickler Syndrome (COL9) affects hearing and balance function as well as to inform future treatment of this condition.
REC name
Wales REC 4
REC reference
24/WA/0156
Date of REC Opinion
3 Jun 2024
REC opinion
Further Information Favourable Opinion