NCT07518069

Genetic and Biohumoral Factors Involved in Menière's Disease and Their Correlation With Phenotypes

Genetics and Biohumoral Factors in Menière's Disease

• Status: Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 250 (estimated)
• Sponsor: IRCCS San Raffaele · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Accepted

Summary

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

Detailed description

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.

Conditions

• Vertigo
• Meniere's Disease
• Vestibular Migraine

Interventions

Type	Name	Description
GENETIC	a blood withdrawal will be obtained	A blood withdrawal will be obtained to assess
GENETIC	blood withdrawal	Genetics of ionic transporters and biohumoral factors related to Meniere's Disease and differences with vestibular migraine subjects

Timeline

• Start date: 2025-04-09
• Primary completion: 2027-04-09
• Completion: 2027-04-12
• First posted: 2026-04-08
• Last updated: 2026-04-08

Locations

1 site across 1 country: Italy