Otolith Function in Patients With Primary Ciliary Dyskinesia

Study Overview
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Brief Summary
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The purpose of this study is to determine whether patients with primary ciliary dyskinesia (PCD) have reduced or absent otolith function.The otolith system is a specific part of the inner ear vestibular (balance) system that detects linear movement.

Detailed Description
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Primary ciliary dyskinesia (PCD) is a genetically inherited condition. It is due to structural abnormalities of cilia, which are microscopic hairs found in organs and cells throughout the body. Patients with this condition typically develop upper respiratory tract symptoms such as sinusitis and glue ear, lower respiratory tract problems such as recurrent chest infections, and fertility problems. There is currently no evidence that patients with PCD have a higher incidence of balance problems. However, recent animal studies have shown that cilia may also be important in the development of part of the inner ear balance (vestibular) system, specifically the part that detects linear movement known as the otolith system. The investigators hope to determine whether patients with PCD have absent or reduced otolith function compared to the normal population. Balance problems are not currently screened for in PCD patients, and could be unrecognized and therefore untreated. It is also possible that PCD patients have compensated for absent otolith function and so are unaffected under normal circumstances; any additional insult to their balance system would cause more pronounced difficulties than expected and treatment might need to reflect this.

Official Title
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Otolith Function in Patients With Primary Ciliary Dyskinesia: a Pilot Study

Conditions
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Primary Ciliary Dyskinesia

Intervention / Treatment
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* Other: Vestibular evoked myogenic potentials (VEMPs)
* Other: Utricular centrifugation test


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: aged 16-30 years Confirmed diagnosis of PCD under the care of the PCD team at the Royal Brompton Hospital Exclusion Criteria: Aged under 16 years Unconfirmed or suspected PCD Previous history of balance disorders or diagnoses Previous history of sensorineural hearing loss Previous middle or inner ear surgery (other than grommet insertion)

Ages Eligible for Study
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Minimum Age: 16 Years
Maximum Age: 30 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Test group<br>Standard tests of balance function | Other: Vestibular evoked myogenic potentials (VEMPs)<br>* Standard test of balance function<br>Other: Utricular centrifugation test<br>* Standard test of balance function<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Vestibular Evoked Myogenic Potentials (VEMPs) | These are the balance tests that specifically assess the otolith organ. | one day | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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otolith, primary ciliary dyskinesia, vestibular tests