Genetic and Biohumoral Factors Involved in Menière's Disease and Their Correlation With Phenotypes
Ориентир для пациента и семьи
Простыми словами
Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.
- Что изучают
- В протоколе указаны: a blood withdrawal will be obtained, blood withdrawal.
- Кому может быть актуально
- Состояния в реестре: Vertigo, Meniere's Disease, Vestibular Migraine. Базовые параметры: от 18 лет · Все.
- Что важно проверить
- Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
- Где проводится
- Италия
- Следующий шаг
- Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →
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Официальное название
Genetics and Biohumoral Factors in Menière's Disease
Обзор
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
Подробное описание
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.
Вмешательства
- Генная терапия a blood withdrawal will be obtained
A blood withdrawal will be obtained to assess - Генная терапия blood withdrawal
Genetics of ionic transporters and biohumoral factors related to Meniere's Disease and differences with vestibular migraine subjects
Первичные конечные точки
- Genetic of ionic transporters [Срок оценки: From enrollment to the end of enrollment in december 2027]
Вторичные конечные точки (1)
- Biohumoral factors specifically Interleukins, Endogenous Ouabain [Срок оценки: From enrollment to the end of the study in july 2027]
Критерии участия
Критерии включения
- Patients with definite Menière's Disease according to the criteria of the Barany Society
Критерии исключения
- surgically treated before the examination or if they had undergone intratympanic therapy with steroids or gentamicin
Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.
Здоровые добровольцы: Да
Дизайн исследования
- Модель наблюдения
- Случай-контроль
Центры проведения
Италия · 1 центр
- IRCCS San Raffaele — Milan
Идентификаторы
NCT: NCT07518069 · GO/URC/ER/mm prot 762