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Aim of this work was to assess the role of polymorphisms belonging to genes involved in the regulation of ionic homeostasis in Caucasian patients with Ménière Disease (MD) and compare results with a cohort of patients affected by vestibular migraine and a cohort of non vestibular subjects
Ménière's Disease (MD) is an inner ear disorder characterized by episodic vertigo, fluctuating sensorineural hearing loss and aural fullness [1]; endolymphatic hydrops is commonly associated with the pathophysiology of the disorder, although current data support the hypothesis that hydrops is an epiphenomenon associated with different inner ear disorders. The frequency of familial cases has been estimated in the range between 5 and 15% and it has been hypothesized that the disorder may arise from the interplay of genetic and environmental factors. Different candidate genes have been studied, although to date genetic investigation produced no conclusive results .
Among others, considering the importance of ionic homeostasis in the inner ear for the maintenance of endocochlear potential, genetic of fluid and ionic homeostasis have been included. A mutation of KCNQ1 and KCNE1 channels, co-expressed in the inner ear and in the heart, leads to a severe sensorineural deafness and a collapse of the cochlear scala media as seen in Jervell and Lange-Nielsen syndrome.
The aim of this work was to assess the role of genetic polymorphisms located in genes involved in the regulation of ionic transport on an Italian population of patients with definite MD.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Menière's Disease; vestibular migraine | Enrolled subjects should fulfil criteria for definite Menière's Disease (group MD) or definite Vestibular Migraine (VM) according to the ongoing criteria of the Barany Society. Moreover a cohort of non vertiginous subjects will be enrolled. A signed informed consent will be obtained by all subjects. A withdrawal for blood sample will be obtained to study genetic and biohumoral factors in the 3 groups |
| |
| Menière's Disease (MD) | To be included, subjects should fulfill definite diagnostic criteria for MD. A blood withdrawal will be obtained to assess genetic and biohumoral aspects |
| |
| Vestibular Migraine (VM) | To be included, subjects should fulfill definite diagnostic criteria for VM. A blood withdrawal will be obtained to assess genetic and biohumoral aspects |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| a blood withdrawal will be obtained | Genetic | A blood withdrawal will be obtained to assess |
|
| Measure | Description | Time Frame |
|---|---|---|
| Genetic of ionic transporters | Genomic DNA of all cases and controls was extracted from venous blood by standard methods. 36 Single Nucleotide Polymorphisms (SNPs) were genotyped using TaqMan® OpenArray™ Genotyping System (Life Technologies, Foster City, CA). All DNA samples were loaded and amplified according to the manufacturer's instructions. | From enrollment to the end of enrollment in december 2027 |
| Measure | Description | Time Frame |
|---|---|---|
| Biohumoral factors specifically Interleukins, Endogenous Ouabain | Values of interleukins and endogenous ouabain is evaluated in blood sample of patients and compared with values in blood samples of a control group and in patients with vestibular migraine | From enrollment to the end of the study in july 2027 |
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Inclusion Criteria:
Exclusion Criteria:
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Patients were included if they fulfilled criteria for definite unilateral MD according to the Barany Society; in subjects enrolled before 2015 a retrospective analysis of data confirmed Barany criteria
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Roberto Carlo Teggi, MD | Contact | +393921569410 | teggi.roberto@hsr.it | |
| Laura Zagato, MD | Contact | +393406133818 | zagato.laura@hsr.it |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| IRCCS San Raffaele | Recruiting | Milan | Italy | 20132 | Italy |
A dataset with genetic data will be shared as a excel file
Initial data will be available in december
Reviewers for the journal in which the work is submitted. On request, other researchers may access to data
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| ID | Term |
|---|---|
| D014717 | Vertigo |
| D008575 | Meniere Disease |
| ID | Term |
|---|---|
| D015837 | Vestibular Diseases |
| D007759 | Labyrinth Diseases |
| D004427 | Ear Diseases |
| D010038 | Otorhinolaryngologic Diseases |
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A blood sample for each subject will be retained
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| blood withdrawal | Genetic | Genetics of ionic transporters and biohumoral factors related to Meniere's Disease and differences with vestibular migraine subjects |
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| D009461 |
| Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D018159 | Endolymphatic Hydrops |