We're building a better ClinicalTrials.gov. Check it out and tell us what you think!
Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu

Evaluation of the Diagnostic Value of Video-oculography in CANVAS Neuronopathies (VOG-Neuropat)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05278091
Recruitment Status : Recruiting
First Posted : March 14, 2022
Last Update Posted : April 22, 2022
Sponsor:
Information provided by (Responsible Party):
Centre Hospitalier Universitaire de Nīmes

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).


Condition or disease Intervention/treatment
Cerebellar Ataxia Other: None, pure observationnal study

Layout table for study information
Study Type : Observational
Estimated Enrollment : 56 participants
Observational Model: Cohort
Time Perspective: Retrospective
Official Title: Evaluation of the Diagnostic Value of Video-oculography in CANVAS (Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome) Neuronopathies
Actual Study Start Date : March 15, 2022
Estimated Primary Completion Date : December 2022
Estimated Study Completion Date : December 2022


Group/Cohort Intervention/treatment
Patients with CANVAS with genetic confirmation
Patients with CANVAS with genetic confirmation (RFC1 gene mutation)
Other: None, pure observationnal study
None, pure observationnal study

others patients
Patients with axonal neuropathy, autoimmune neuronopathy and anti-MAG neuropathy
Other: None, pure observationnal study
None, pure observationnal study

Healthy controls
Patients without CANVAS or other neuropathy
Other: None, pure observationnal study
None, pure observationnal study




Primary Outcome Measures :
  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



Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Sampling Method:   Probability Sample
Study Population
Patients followed at the CHU of Nîmes between 2018-2021, with a diagnosis of CANVAS with several control groups constituted by patients with a neuropathy of different etiology (a first control group with axonal neuropathies and thus no ataxia in the foreground, a second group with ataxiating neuropathies : (anti-MAG neuropathy, neuronopathies of autoimmune origin) and a healthy control group without neuropathy).
Criteria

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05278091


Contacts
Layout table for location contacts
Contact: Ioana ION 06 22 920361 ioanamaria@chu-nimes.fr

Locations
Layout table for location information
France
CHU de Nîmes Recruiting
Nîmes, Choisir Une Région, France, 30029
Contact: Ioana Maria ION    0622920361    ioanamaria@chu-nimes.fr   
Sponsors and Collaborators
Centre Hospitalier Universitaire de Nīmes
Investigators
Layout table for investigator information
Study Director: Anissa MEGZARI Centre Hospitalier Universitaire de Nīmes
Publications of Results:

Layout table for additonal information
Responsible Party: Centre Hospitalier Universitaire de Nīmes
ClinicalTrials.gov Identifier: NCT05278091    
Other Study ID Numbers: Local/2022/II-02
First Posted: March 14, 2022    Key Record Dates
Last Update Posted: April 22, 2022
Last Verified: April 2022

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
Layout table for MeSH terms
Ataxia
Cerebellar Ataxia
Dyskinesias
Neurologic Manifestations
Nervous System Diseases
Cerebellar Diseases
Brain Diseases
Central Nervous System Diseases