Audiovestibular Function in Infratentorial Superficial Siderosis

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.

Conditions

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

Interventions

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

Sponsors & Collaborators

• NIHR UCLH Biomedical Research Centre (BRC)

  collaborator UNKNOWN

• Bernice Bibby Research Trust

  collaborator UNKNOWN

• University College, London

  lead OTHER

Principal Investigators

• Doris-Eva Bamiou, Professor · UCL Ear Institute; UCLH NHS Foundation Trust, UK

• David J Werring, Professor · Stroke Research Centre UCL IoN; UCLH NHS Foundation Trust, UK

Eligibility

Min Age

18 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2020-02-07

Primary Completion

2021-10-19

Completion

2021-10-19

Countries

• United Kingdom

Study Locations