Autosomal Dominant Spinocerebellar Ataxias and Social Cognition

Официальное название

Ataxies SpinoCérébelleuses Autosomiques Dominantes et Cognition Sociale - Etude SoCoSca

Обзор

Spinocerebellar ataxias are a group of rare neurodegenerative diseases, clinically and genetically highly heterogeneous, with an estimated mean prevalence of 2.7 per 100,000 population. The term "spinocerebellar ataxia" or "SCA" is often used for ataxias of genetic origin of autosomal dominant transmission, which are the subject of this study. Recent studies of social cognition in patients with genetic cerebellar pathologies, and autosomal dominant spinocerebellar ataxia in particular, are still few and far between (around 15 studies), and seem to highlight impairment of basic emotion recognition and theory of mind skills. That said, data have very often been collected on very small samples of patients (sometimes in case study format). They also remain contradictory, including in the examination of the cerebellar anatomoclinical correlates of the deficits. Thus, the question arises as to whether patients with spinocerebellar ataxia also show impairments in emotion recognition and cognitive and affective theory of mind in more ecologically valid dynamic and interactive assessment situations.

Вмешательства

• Другое tests
  neuropsychological tests + Neuroimaging

Первичные конечные точки

• to assess the social cognition with the Facial Emotion Recognition Test from classical approach [Срок оценки: Baseline]
• to assess the social cognition with the Faux Pas Test from classical approach [Срок оценки: Baseline]
• to assess the social cognition with the Reading the Mind in the Eyes test from classical approach [Срок оценки: Baseline]
• to assess the social cognition with the sequencing test from classical approach [Срок оценки: Baseline]
• to assess the social cognition with the French Emotion Evaluation Test from ecological approach [Срок оценки: Baseline]
• to assess the social cognition with the Movie for the Assessment of Social Cognition Test from ecological approach [Срок оценки: Baseline]
• to assess the social cognition with the social problem-solving test from interactionist approach [Срок оценки: Baseline]

Вторичные конечные точки (12)

• Search for and describe any deficits in social cognition by identifying pathological treshold with Facial Emotion Recognition Test [Срок оценки: Baseline]
• Research and describe any deficits in social cognition by identifying pathological treshold with false step test [Срок оценки: Baseline]
• Research and describe any deficits in social cognition by identifying pathological treshold with Reading the Mind in the Eyes test [Срок оценки: Baseline]
• Search for and describe any deficits in social cognition by identifying pathological treshold with sequencing test [Срок оценки: Baseline]
• Research and describe any deficits in social cognition by identifying pathological treshold with French Emotion Evaluation Test [Срок оценки: Baseline]
• Research and describe any deficits in social cognition by identifying pathological treshold with Movie for the Assessment of Social Cognition [Срок оценки: Baseline]
• Research and describe any deficits in social cognition by identifying pathological treshold with social problem-solving test [Срок оценки: Baseline]
• Research and describe any deficits in social cognition by identifying pathological treshold with brain neuroimaging [Срок оценки: 3 months]
• Study correlations between social cognition efficiency and - Global cognitive functioning assessed by the CCAS-S scale [Срок оценки: Baseline]
• Study correlations between social cognition efficiency and Sociobehavioral and emotional abilities assessed by the Neuropsychiatric Inventory Questionnaire [Срок оценки: Baseline]
• Study correlations between social cognition efficiency and Sociobehavioral and Sociobehavioral and emotional abilities assessed by the Frontal System Behaviour Scale [Срок оценки: Baseline]
• Study correlations between social cognition efficiency and Sociobehavioral and Sociobehavioral by Hospital Anxiety and Depression scale [Срок оценки: Baseline]

Критерии участия

Критерии включения

For all participants:

• Men or women aged 18 and over
• At least 7 years' schooling (CEP level)
• Ability to read, write and speak French
• Signed informed consent to participate in the study

For patients :

\- With molecularly confirmed autosomal dominant spinocerebellar ataxia (SCA1, 2, 3, 6, 7, 27B)

For controls:

\- With no neurological pathology (questioning and neurological examination)

Критерии исключения

For patients and controls:

• Simultaneous participation in another protocol that may interfere with the measurement of the criteria of interest
• Physical or cultural factors likely to interfere with test performance
• History likely to interfere with cognition (stroke, cranioencephalic trauma, other neurodegenerative disease, epilepsy, learning disability, alcohol dependence syndrome, psychiatric disorders...)
• Persons with contraindications to MRI scans
• Pregnant, nursing or parturient women
• Persons deprived of their liberty by judicial or administrative decision
• Persons under compulsory psychiatric care
• Persons subject to a legal protection measure
• Persons unable to express their consent
• Persons not affiliated to or not benefiting from a social security scheme (beneficiary or beneficiary entitled)

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Да

Дизайн исследования

Распределение

Нерандомизированное

Модель

Параллельные группы

Маскирование

Открытое

Основная цель

Другое

Центры проведения

Франция · 1 центр

• CHU Angers — Angers

Идентификаторы

NCT: NCT07099651 · 49RC23_0390 · ID-RCB 2025-A01253-46

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

Открыть это исследование на ClinicalTrials.gov ↗