Primary Ciliary Dyskinesia
Conditions
Keywords
primary ciliary dyskinesia, otolith, vestibular tests
Brief summary
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
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.
Interventions
Standard test of balance function
OTHERUtricular centrifugation test
Standard test of balance function
Sponsors
Imperial College Healthcare NHS Trust
Study design
Observational model
CASE_ONLY
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
16 Years to 30 Years
Healthy volunteers
No
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)
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Vestibular Evoked Myogenic Potentials (VEMPs) | one day | These are the balance tests that specifically assess the otolith organ. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Utricular Centrifugation Test (UCF) | one day | balance assessment |
Countries
United Kingdom
Participant flow
Participants by arm
| Arm | Count |
|---|---|
| Test Group Utricular centrifugation and VEMPs: Standard tests of balance function | 5 |
| Total | 5 |
Baseline characteristics
| Characteristic | Test Group |
|---|---|
| Age, Categorical <=18 years | 0 Participants |
| Age, Categorical >=65 years | 0 Participants |
| Age, Categorical Between 18 and 65 years | 5 Participants |
| Region of Enrollment United Kingdom | 5 participants |
| Sex: Female, Male Female | 0 Participants |
| Sex: Female, Male Male | 5 Participants |
Adverse events
| Event type | EG000 affected / at risk |
|---|---|
| deaths Total, all-cause mortality | — / — |
| other Total, other adverse events | 0 / 5 |
| serious Total, serious adverse events | 0 / 5 |
Outcome results
Primary
Vestibular Evoked Myogenic Potentials (VEMPs)
These are the balance tests that specifically assess the otolith organ.
Time frame: one day
| Arm | Measure | Group | Value (NUMBER) |
|---|---|---|---|
| Test Group | Vestibular Evoked Myogenic Potentials (VEMPs) | Reduced/absent VEMP bilaterally | 3 participants |
| Test Group | Vestibular Evoked Myogenic Potentials (VEMPs) | Reduced/absent VEMP unilaterally | 2 participants |
| Test Group | Vestibular Evoked Myogenic Potentials (VEMPs) | Normal VEMP | 0 participants |
Other Pre-specified
Utricular Centrifugation Test (UCF)
balance assessment
Time frame: one day
| Arm | Measure | Group | Value (NUMBER) |
|---|---|---|---|
| Test Group | Utricular Centrifugation Test (UCF) | Normal UCF | 2 participants |
| Test Group | Utricular Centrifugation Test (UCF) | Asymmetrical UCF (not significant) | 3 participants |
| Test Group | Utricular Centrifugation Test (UCF) | Pathological UCF asymmetry | 0 participants |