Autosomal Dominant Spinocerebellar Ataxias and Social Cognition

NCT ID: NCT07099651

Last Updated: 2026-02-05

Basic Information

• Recruitment Status: RECRUITING
• Clinical Phase: NA
• Total Enrollment: 160 participants
• Study Classification: INTERVENTIONAL
• Study Start Date: 2025-12-09
• Study Completion Date: 2029-01-01

Brief Summary

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.

Conditions

Autosomal Dominant Spinocerebellar Ataxia (SCA1, 2,3,6,7,27B)

Study Design

• Allocation Method: NON_RANDOMIZED
• Intervention Model: PARALLEL
• Primary Study Purpose: OTHER
• Blinding Strategy: NONE

Study Groups

patients autosomal dominant spinocerebellar ataxia

Group Type: ACTIVE_COMPARATOR

tests

Intervention Type: OTHER

neuropsychological tests + Neuroimaging

healthy patients

Group Type: ACTIVE_COMPARATOR

tests

Intervention Type: OTHER

neuropsychological tests + Neuroimaging

Interventions

tests

neuropsychological tests + Neuroimaging

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

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)

Exclusion Criteria

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)

• Minimum Eligible Age: 18 Years
• Maximum Eligible Age: 100 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: Yes

Sponsors

University Hospital, Angers

OTHER_GOV

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Locations

CHU Angers

Angers, , France

Site Status: RECRUITING

Countries

France

Central Contacts

Philippe Allain, professor

Role: CONTACT

phallain@chu-angers.fr

+33241355976

Facility Contacts

Philippe ALLAIN, Professor

Role: primary

+332 41 35 55 46

Other Identifiers

ID-RCB 2025-A01253-46

Identifier Type: OTHER

Identifier Source: secondary_id

49RC23-0390

Identifier Type: -

Identifier Source: org_study_id