Autosomal Dominant Spinocerebellar Ataxias and Social Cognition

NCT07099651 | Recruiting

• 2 other identifiers: 49RC23-0390ID-RCB 2025-A01253-46
• Study Type: interventional
• Target: 160
• Locations: 1 country
• Sites: 1

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)

Outcome Measures

Primary Outcomes (7)

• to assess the social cognition with the Facial Emotion Recognition Test from classical approach

  Facial Emotion Recognition Test evaluates the ability to recognize 6 fundamental and universal emotions: happiness, anger, sadness, fear, disgust and contempt. Each emotion is expressed by a different face at 9 levels of expressive intensity, ranging from 20% to 100%

  Baseline

• to assess the social cognition with the Faux Pas Test from classical approach

  Faux Pas Test: in its shortened 10-story version, it assesses the ability to recognize social awkwardness (or faux-pas). Fictitious stories are presented to the person, in paper format: 5 stories contain faux-pas and 5 others do not. The person can reread them as many times as necessary, and must detect whether "someone said something they shouldn't have, or something awkward". If this is the case, she is asked 5 additional questions to assess her understanding of the clumsiness. Each story is followed by 2 comprehension questions, to rule out a comprehension problem. This task takes 20 minutes to administer. The test produces different scores: the higher the score, the better the performance.

  Baseline

• to assess the social cognition with the Reading the Mind in the Eyes test from classical approach

  Reading the Mind in the Eyes test: Thirty-six photographs of gazes (male and female) are presented to the participant, who is asked to select from 4 expression proposals the one that seems most appropriate to the subject's affective mental state (what he or she may be feeling). A lexicon that can be consulted at will is provided to the subject to compensate for any uncertainties concerning the proposed items. The maximum score is 36 (1 point per correctly chosen item). The test takes 15 to 20 minutes to complete.

  Baseline

• to assess the social cognition with the sequencing test from classical approach

  sequencing test: sequential arrangement of 12 scenarios, all consisting of 4 images in the format of short comic strips. They represent mechanical (non-social) events and social scripts including true (4 scenarios) and false beliefs (4 scenarios). Subjects are asked to put each image sequence, presented in random order, back into chronological order. There are 4 non-social scenarios, 4 true-belief scenarios and 4 false-belief scenarios for a 12-point score. The test begins with 2 practice trials. The test lasts 20 minutes.

  Baseline

• to assess the social cognition with the French Emotion Evaluation Test from ecological approach

  French Emotion Evaluation Test: audiovisual, ecological and valid emotion recognition test. It tests subjects' ability to recognize basic emotions expressed by other people. It comprises 35 short video sequences (15 to 30 seconds) plus an example item. In each of these sequences, actors interpret everyday situations associated with one of the 6 basic emotions: joy, sadness, anger, surprise, disgust and fear. The test produces a total response score of between 0 and 35.

  Baseline

• to assess the social cognition with the Movie for the Assessment of Social Cognition Test from ecological approach

  evaluates theory of mind in dynamic modality. It was adapted and validated in French (MASC-VF) as part of a partnership between Patricia Garel's team (Hopital Universitaire de Sainte-Justine, Montreal, Quebec) and Isabelle Amado's team (Centre Hospitalier Sainte-Anne, Service Hospitalo-Universitaire, Paris, France). This test assesses both the affective and cognitive sides of theory of mind, and also includes six control questions to rule out a comprehension problem. The test takes around 40 minutes to administer. The test will assess the cognitive and affective theory-of-mind abilities of ALS patients in comparison with those of matched control subjects. The MASC calculates 5 scores: 1 comprehension score, 1 correct response score ranging from 0 to 45 points and 3 error scores (wrong answers are divided into 3 categories: under-interpretation error, over-interpretation error and no interpretation). The higher the score of correct answers, the better the performance.

  Baseline

• to assess the social cognition with the social problem-solving test from interactionist approach

  This test has been developped at Angers . A total of 10 stories involving social problems will be proposed. For 5 of them, the participant will have to produce verbal solutions, and for the other 5, act them out in a social role-playing situation, with a partner. The test lasts 40 minutes.

  Baseline

Secondary Outcomes (30)

• Search for and describe any deficits in social cognition by identifying pathological treshold with Facial Emotion Recognition Test

  Baseline

• Research and describe any deficits in social cognition by identifying pathological treshold with false step test

  Baseline

• Research and describe any deficits in social cognition by identifying pathological treshold with Reading the Mind in the Eyes test

  Baseline

• Search for and describe any deficits in social cognition by identifying pathological treshold with sequencing test

  Baseline

• Research and describe any deficits in social cognition by identifying pathological treshold with French Emotion Evaluation Test

  Baseline

Study Arms (2)

patients autosomal dominant spinocerebellar ataxia

ACTIVE COMPARATOR

Other: tests

healthy patients

ACTIVE COMPARATOR

Other: tests

Interventions

tests OTHER

neuropsychological tests + Neuroimaging

healthy patients; patients autosomal dominant spinocerebellar ataxia

Eligibility Criteria

• Age: 18 Years - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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)

You may not qualify if:

• 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)

Sponsors & Collaborators

• University Hospital, Angers: lead

Study Sites (1)

CHU Angers

Angers, 49933, France

RECRUITING

MeSH Terms

Conditions

Spinocerebellar Ataxias

Condition Hierarchy (Ancestors)

Cerebellar Ataxia; Cerebellar Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Spinocerebellar Degenerations; Spinal Cord Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Ataxia; Dyskinesias; Neurologic Manifestations; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Central Study Contacts

Philippe Allain, professor

CONTACT

+33241355976; phallain@chu-angers.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: OTHER
• Intervention Model: PARALLEL
• Sponsor Type: OTHER GOV
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 17, 2025
• First Posted: August 1, 2025
• Study Start: December 9, 2025
• Primary Completion (Estimated): November 1, 2028
• Study Completion (Estimated): January 1, 2029
• Last Updated: February 5, 2026

Record last verified: 2026-02

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: The data will be shared after signing a negotiated data transfer agreement ( data access agreement), for the duration specified in the agreement.
• Access Criteria: The data will be made available via secure transfer (sharing platform approved by the university hospital: BlueFiles or Oodrive).

Locations

FR (1)