Ignite Creation Date:
2024-05-06 @ 5:20 PM
Last Modification Date:
2024-10-26 @ 2:27 PM
Study NCT ID:
NCT05278091
Status:
COMPLETED
Last Update Posted:
2024-03-08
First Post:
2022-03-04
Brief Title:
Evaluation of the Diagnostic Value of Video-oculography in CANVAS Neuronopathies
Sponsor:
Centre Hospitalier Universitaire de Nīmes
Organization:
Centre Hospitalier Universitaire de Nīmes
Study Overview
Official Title:
Evaluation of the Diagnostic Value of Video-oculography in CANVAS Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome Neuronopathies
Status:
COMPLETED
Status Verified Date:
2024-03
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
VOG-Neuropat
Brief Summary:
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
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
Detailed Description:
None
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?:
None