Идёт набор NCT07095062

Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.

Без фазы С лечением Friedreich's Ataxia Motor Disorders

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: HD-EEG recordings, combined with cognitive and motor assessment.
Кому может быть актуально: Состояния в реестре: Friedreich's Ataxia, Motor Disorders. Базовые параметры: 8 лет — 60 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

Structural-Functional Connectome and High Density Electroencephalogram: Pilot Study in Patients With Friedreich's Ataxia.

Обзор

Prospective, exploratory, multicenter pilot study investigating the structural and functional connectome in patients with Friedreich's Ataxia (FRDA) using high-density electroencephalogram (HD-EEG). The aim is to identify neurophysiological biomarkers and analyze the relationship between cortical connectivity, cognitive functioning, and clinical severity, particularly in response to rehabilitation treatment.

Подробное описание

Friedreich's Ataxia (FRDA) is a progressive neurodegenerative disease caused by mutations in the FXN gene, resulting in a reduction in the mitochondrial protein frataxin and a dysfunction in iron homeostasis. In addition to motor and sensory impairments, FRDA also results in cognitive and emotional deficits. Pathophysiologically, it is associated with cerebellar degeneration and alterations in cerebello-cortical networks.

The present study proposes a novel HD-EEG-based approach to analyze brain activity at resting-state and during the performance of a motor task (task-based) in subjects with FRDA. Thirty patients with confirmed genetic diagnosis, age between 8 and 60 years, and SARA score \<30 will be recruited. EEG recordings will be performed in resting condition and during an upper limb motor task.

In addition to neurophysiological measures, each participant will undergo a comprehensive neuropsychological evaluation, including memory, attention, language, visuospatial skills, praxis, executive functions, emotional and personality aspects. Connectivity data will be correlated with cognitive profiles and scores on the SARA and mFARS clinical scales.

Вмешательства

Устройство HD-EEG recordings, combined with cognitive and motor assessment
Participants will undergo high-density EEG (HD-EEG) recordings under two conditions: at rest and while performing an upper limb motor task. The data obtained will be used to reconstruct source cortical activity and derive patterns of functional connectivity, using advanced neurophysiological analysis techniques, including the Avalanche Transition Matrix (ATM). In addition, patients will complete a neuropsychological assessment and participate in an intensive multidisciplinary rehabilitation prog

Первичные конечные точки

Connectivity profile derived from HD-EEG in subjects with FRDA. [Срок оценки: From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up]
Functional activity derived from HD-EEG in subjects with FRDA. [Срок оценки: From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up]

Вторичные конечные точки (1)

Correlation between functional connectivity/activity and quantitative parameters derived from neuropsychological scales. Correlation between functional connectivity/activity and quantitative parameters derived from motor scales (SARA and mFARS). [Срок оценки: From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up]

Критерии участия

Критерии включения

age between 8 and 60 years;
genetic diagnosis of FRDA: presence of guanine-adenine trinucleotide (GAA) expansion in the two alleles of the fratassin gene, GAA1 and GAA2;
score on the Scale for the Assessment and Rating of Ataxia (SARA) < 30;
ability to take part in a neuropsychological assessment in Italian.