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Completed

NCT Number: NCT05278091

Evaluation of the Diagnostic Value of Video-oculography in CANVAS Neuronopathies

Cerebellar ataxia syndrome with neuropathy and vestibular areflexia (CANVAS) is a genetic pathology of recent discovery (bi-allelic expansion in intron 1 of the RFC1 gene with AAGG repetition). The clinical picture is protean, associating a neuronopathy, a bilateral vestibulopathy evidenced by an alteration of the oculovestibular reflex (VOR), an atrophy of the cerebellum and a chronic cough.

In the initial stage of the disease the clinical picture is heterogeneous and often incomplete. Ataxia at the beginning of the disease may be the consequence of peripheral nervous system involvement (neuronopathy) and the cerebellar syndrome may manifest itself clinically late.

Eye movement involvement in central nervous system pathologies is common (4). Oculomotor abnormalities are often subclinical and sometimes exclusively identifiable by an instrumental study, video-oculography (VOG) (5).

VOG is a non-invasive examination of eye movements, which is increasingly used in the differential diagnosis of neurodegenerative syndromes (6). This examination allows, among other things, to identify oculomotor anomalies, even discrete and asymptomatic, by studying the combined movements of the eyes and the oculocephalic movements.

The study of oculomotricity by VOG can therefore potentially contribute to the early differential diagnosis of ataxiating neuropathies, including CANVAS, by revealing infra-clinical oculomotor abnormalities correlated with a cerebellar expectation (knowing the role of the dorsal vermis in the precision of saccades and pursuits).

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Key information

Conditions

Cerebellar Ataxia Ataxia Brain Diseases Central Nervous System Diseases Cerebellar Diseases Dyskinesias Nervous System Diseases Neurologic Manifestations Pathological Conditions, Signs and Symptoms Signs and Symptoms

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU de Nîmes

Nîmes, Choisir Une Région, 30029, France

Who can participate

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

Patients followed at the University Hospital of Nîmes between 2018-2021

  • Age > 18 years
  • Patients with CANVAS with genetic confirmation (RFC1 gene mutation)
  • Patients with axonal neuropathy, autoimmune neuronopathy and anti-MAG neuropathy
  • Healthy controls

Treatment and study plan

None, pure observationnal study

Other

None, pure observationnal study

Primary outcomes

  1. jerky pursuits

    Time frame: Baseline, Day 0

    Comparison of video oculography results (saccadic pursuits) of patients with a diagnosis of CANVAS with those of the other groups

  2. gaze evoked nystagmus

    Time frame: Baseline, Day 0

    Comparison of video oculography results (gaze evoked nystagmus) of patients with a diagnosis of CANVAS with those of the other groups

  3. down beat nystagmus

    Time frame: Baseline, Day 0

    Comparison of video oculography results (down beat nystagmus) of patients with a diagnosis of CANVAS with those of the other groups

  4. rebound nystagmus

    Time frame: Baseline, Day 0

    Comparison of video oculography results (rebound nystagmus) of patients with a diagnosis of CANVAS with those of the other groups

Sponsors and collaborators

Lead sponsor

Centre Hospitalier Universitaire de Nīmes

Other

Registry information

Official study title

Evaluation of the Diagnostic Value of Video-oculography in CANVAS (Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome) Neuronopathies

Acronym: VOG-Neuropat

Important dates

Study start
2022
Primary completion
2023
Study completion
2023
First posted
Mar 14, 2022
Registry last updated
Mar 8, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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