Otolith Function in Patients With Primary Ciliary Dyskinesia

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

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.

Study Overview

• Status: Completed
• Conditions: Primary Ciliary Dyskinesia
• Intervention / Treatment: Other: Vestibular evoked myogenic potentials (VEMPs); Other: Utricular centrifugation test

Detailed Description

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.

• Study Type: Observational
• Enrollment (Actual): 5

Contacts and Locations

Study Locations

• United Kingdom
  • London, United Kingdom, W6 8RF
    • Charing Cross Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 16 years to 30 years (ADULT, CHILD)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Ten patients from the PCD clinic at the Royal Brompton Hospital, London.

Description

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)

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Test group; Standard tests of balance function	Other: Vestibular evoked myogenic potentials (VEMPs); Standard test of balance function; Other: Utricular centrifugation test; Standard test of balance function

What is the study measuring?

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

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Utricular Centrifugation Test (UCF)	balance assessment	one day

Collaborators and Investigators

• Sponsor: Imperial College Healthcare NHS Trust
• Investigators: Principal Investigator: Joanne Rimmer, MA FRCS, Imperial College Healthcare NHS Trust; Study Director: Jonny Harcourt, MA FRCS, Imperial College Healthcare NHS Trust

Publications and helpful links

General Publications

• Rimmer J, Patel M, Agarwal K, Hogg C, Arshad Q, Harcourt J. Peripheral vestibular dysfunction in patients with primary ciliary dyskinesia: abnormal otoconial development? Otol Neurotol. 2015 Apr;36(4):662-9. doi: 10.1097/MAO.0000000000000592.

Study record dates

Study Major Dates

• Study Start: September 1, 2010
• Primary Completion (ACTUAL): December 1, 2013
• Study Completion (ACTUAL): December 1, 2013

Study Registration Dates

• First Submitted: November 22, 2010
• First Submitted That Met QC Criteria: November 22, 2010
• First Posted (ESTIMATE): November 23, 2010

Study Record Updates

• Last Update Posted (ESTIMATE): April 6, 2016
• Last Update Submitted That Met QC Criteria: March 8, 2016
• Last Verified: August 1, 2014

More Information

Terms related to this study

• Keywords: primary ciliary dyskinesia; otolith; vestibular tests
• Additional Relevant MeSH Terms: Central Nervous System Diseases; Nervous System Diseases; Respiratory Tract Diseases; Neurologic Manifestations; Congenital Abnormalities; Genetic Diseases, Inborn; Otorhinolaryngologic Diseases; Movement Disorders; Abnormalities, Multiple; Ciliopathies; Dyskinesias; Ciliary Motility Disorders
• Other Study ID Numbers: JROHH0046