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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Test group | Standard tests of balance function |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Vestibular evoked myogenic potentials (VEMPs) | Other | Standard test of balance function |
| |
| Measure | Description | Time Frame |
|---|---|---|
| Vestibular Evoked Myogenic Potentials (VEMPs) | These are the balance tests that specifically assess the otolith organ. | one day |
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| Measure | Description | Time Frame |
|---|---|---|
| Utricular Centrifugation Test (UCF) | balance assessment | one day |
Inclusion Criteria:
Exclusion Criteria:
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Ten patients from the PCD clinic at the Royal Brompton Hospital, London.
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| Name | Affiliation | Role |
|---|---|---|
| Joanne Rimmer, MA FRCS | Imperial College Healthcare NHS Trust | Principal Investigator |
| Jonny Harcourt, MA FRCS | Imperial College Healthcare NHS Trust | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Charing Cross Hospital | London | W6 8RF | United Kingdom |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 25226371 | Result | 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. |
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| ID | Title | Description |
|---|---|---|
| FG000 | Test Group | Utricular centrifugation and VEMPs: Standard tests of balance function |
| Title | Milestones | Reasons Not Completed | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Overall Study |
|
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| ID | Title | Description |
|---|---|---|
| BG000 | Test Group | Utricular centrifugation and VEMPs: Standard tests of balance function |
| Units | Counts |
|---|---|
| Participants |
|
| Title | Description | Population Description | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Denominator Units Selected | Denominators | Classes |
|---|---|---|---|---|---|---|---|---|---|
| Age, Categorical | Count of Participants |
| Type | Title | Description | Population Description | Reporting Status | Anticipated Posting Date | Parameter Type | Dispersion Type | Unit of Measure | Calculate Percentage | Time Frame | Units Analyzed | Denominator Units Selected | Arm/Group Information | Denominators | Classes | Analyses | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Primary | Vestibular Evoked Myogenic Potentials (VEMPs) | These are the balance tests that specifically assess the otolith organ. | Posted | Number | participants | one day |
|
|
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| ID | Title | Description | Deaths (Affected) | Deaths (At Risk) | Serious Events (Affected) | Serious Events (At Risk) | Other Events (Affected) | Other Events (At Risk) |
|---|---|---|---|---|---|---|---|---|
| EG000 | Test Group | Utricular centrifugation and VEMPs: Standard tests of balance function |
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| Title | Organization | Phone | Extension | |
|---|---|---|---|---|
| Joanne Rimmer | Imperial Health | 0061402931120 | rimmer.joanne@gmail.com |
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| ID | Term |
|---|---|
| D002925 | Ciliary Motility Disorders |
| ID | Term |
|---|---|
| D012140 | Respiratory Tract Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D000072661 | Ciliopathies |
| D000015 | Abnormalities, Multiple |
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| ID | Term |
|---|---|
| D058585 | Vestibular Evoked Myogenic Potentials |
| ID | Term |
|---|---|
| D019054 | Evoked Potentials, Motor |
| D005071 | Evoked Potentials |
| D000071080 | Cortical Excitability |
| D055724 | Electrophysiological Phenomena |
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| Utricular centrifugation test |
| Other |
Standard test of balance function |
|
| Participants |
|
| Sex: Female, Male | Count of Participants | Participants |
|
| Region of Enrollment | Number | participants |
|
|
| Other Pre-specified | Utricular Centrifugation Test (UCF) | balance assessment | Posted | Number | participants | one day |
|
|
|
| 0 |
| 5 |
| 0 |
| 5 |
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| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D010829 | Physiological Phenomena |
|