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
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.Summary of Results
This study was designed to investigate the effect of Stickler Syndrome (COL9) on hearing and balance function. The inner ear consists of a hearing organ (the cochlea) and a balance (vestibular) organ. It is known that the organ of hearing is often affected in Stickler syndromes, causing hearing loss. However, there has been very little research on any relationship between Stickler syndrome and balance function and no research on balance function affecting type IX collagen-related Stickler syndrome (COL9).Study participation involved a hearing test, a measure of middle ear function (tympanometry), a video head impulse test (vHIT) and a questionnaire about dizziness (Dizziness Handicap Inventory).
The summary findings of the study suggest normal balance (vestibular) function, with most participants also reporting no balance difficulties in the questionnaire. This suggests the balance organs may not be affected. The middle ear function (between the ear drum and the cochlea) was normal in most participants. This suggests that the middle ear may not be not be affected. Hearing loss is known to affect Stickler syndrome, including COL9 variants. Hearing loss was seen in most participants, with the average hearing loss found to be a mild-moderate sensorineural (affecting the cochlear). This is a similar type and severity of hearing loss that has been found in previous COL9 research studies.
As the first study to assess balance function, middle ear function and self-reported dizziness in this subtype of Stickler syndrome, this study makes a valuable contribution to what is known about COL9 Stickler syndrome. We plan to publish these findings in a scientific journal, to inform future research and treatment of this condition. However, as this was a small study, with one short measurement of one part of the balance organ, additional, larger studies with more measurements of all parts of the balance system are recommended.
Eight participants were included in the study. This is a low sample number therefore we cannot draw complete conclusions from it. The Study, approved by the Cambridge University Hospitals and NHS research ethics committee (REC) was conducted by Charlotte Skipper, Clinical Scientist in Audiology in Addenbrooke's Audiology Department and Rebecca Silkstone, Trainee Clinical Scientist in Audiology.
REC name
Wales REC 4
REC reference
24/WA/0156
Date of REC Opinion
3 Jun 2024
REC opinion
Further Information Favourable Opinion