NCT04200664

Audiovestibular Function in Infratentorial Superficial Siderosis

Clinical and Imaging Biomarkers of Audiovestibular Function in Infratentorial Superficial Siderosis

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 11 (actual)
• Sponsor: University College, London · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

One in six people in the United Kingdom and over 400 million people worldwide have disabling hearing loss. This figure will double by 2050 as predicted by the World Health Organisation. There is an urgent need to improve our knowledge regarding hearing loss, its underlying mechanisms, optimal diagnostic modalities, reliable and accurate functional and imaging biomarkers. A less-well studied condition associated with progressive hearing loss is infratentorial superficial siderosis (iSS). It results from iron deposition along the surfaces of brain structures which control hearing and balance. It is currently considered uncommon, but may well be under-recognised and therefore under-reported. Despite its severity, our current understanding of its impact on the hearing (auditory) and balance (vestibular) functions is limited, and this has an adverse impact on the treatment offered to these patients. Additionally, iSS patients have been reported to have cognitive impairment yet literature reports of cognitive assessment in iSS are few. The cognitive dysfunction may be specific to iSS or due to progressive hearing impairment or a combination of both, and further studies are required to establish this. Olfaction is also known to be affected in patients with iSS yet is rarely reported in the literature. Due to the significant morbidity and progressive nature, there is a clear need to improve our understanding of the audiovestibular dysfunction resulting from iSS. The aim of this study is to comprehensively assess audiovestibular function in iSS compared to age-related hearing loss and the controls/normative data and as a means to quantify deficits for monitoring disease progression and response to treatment, to assess the impact on the quality of life, to analyse clinically-obtained data (including imaging, cognitive and laboratory data), and correlate these with functional findings in iSS.

Detailed description

This study focuses on a rare condition called infratentorial superficial siderosis (iSS)-a disease where iron gradually accumulates in the superficial layers of the brain and spinal cord. Over time, this buildup can damage the nerves responsible for hearing and balance amongst others, leading to symptoms like progressive hearing loss, dizziness, and problems with coordination. iSS has not been well studied in the past. The hearing and balance function in persons with iSS has been described as variable - meaning, there has not been a specific pattern of hearing loss or imbalance or dizziness that can be associated with iSS. The studies to date have been with small groups of patients but mainly case reports. The aim of the AVISS study has been to address this gap in the knowledge. This study investigates how iSS affects hearing, balance, and even sense of smell by studying three groups of people: 1. People with iSS, who already have hearing and balance problems. 2. People with age-related hearing loss, to compare how hearing declines over time. 3. People with normal hearing, serving as a control group. The study will take place over three years, using a range of tests to assess hearing and balance: * Hearing tests like pure tone audiometry, speech-in-noise assessments, and auditory brainstem response. * Balance tests such as vestibular evaluations, gait assessments, and head impulse testing. * Olfactory (smell) tests, since iSS might also affect sensory perception. By collecting this data, the study aims to improve how iSS is diagnosed, identify better rehabilitation methods, and explore new treatment options for those affected. The study is funded by NIHR UCLH Biomedical Research Centre and the Bernice Bibby Research Trust, ensuring experts have the resources needed to make meaningful discoveries. Ultimately, the goal is to help doctors recognize iSS earlier, support affected individuals more effectively and improve their overall quality of life.

Conditions

• Siderosis
• Neurological Disorder
• Rare Diseases
• Age Related Hearing Loss
• Presbycusis

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Hearing assessment	All study participants will undergo hearing tests, including hearing-specific questionnaires
DIAGNOSTIC_TEST	Vestibular/balance assessment	Siderosis group participants will undergo vestibular/balance tests, including gait assessment and balance-specific questionnaires
OTHER	Quality of life assessment	All study participants will be asked to complete a set of quality of life questionnaires
DIAGNOSTIC_TEST	Olfactory (smell) function testing	Siderosis group participants will undergo a formal smell identification testing by means of self-administered smell chart to identify the revealed scents
GENETIC	DNA bio-banking	Siderosis group participants will be asked to provide a saliva sample for DNA bio-banking

Timeline

• Start date: 2020-02-07
• Primary completion: 2021-10-19
• Completion: 2021-10-19
• First posted: 2019-12-16
• Last updated: 2025-06-10
• Results posted: 2025-06-10

Locations

2 sites across 1 country: United Kingdom