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

NCT05278091 | Completed

• 1 other identifier: Local/2022/II-02
• Study Type: observational
• Target: 56
• Locations: 1 country
• Sites: 1

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).

Conditions

Cerebellar Ataxia

Outcome Measures

Primary Outcomes (4)

• jerky pursuits

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

  Baseline, Day 0

• gaze evoked nystagmus

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

  Baseline, Day 0

• down beat nystagmus

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

  Baseline, Day 0

• rebound nystagmus

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

  Baseline, Day 0

Study Arms (3)

Patients with CANVAS with genetic confirmation

Patients with CANVAS with genetic confirmation (RFC1 gene mutation)

Other: None, pure observationnal study

others patients

Patients with axonal neuropathy, autoimmune neuronopathy and anti-MAG neuropathy

Other: None, pure observationnal study

Healthy controls

Patients without CANVAS or other neuropathy

Other: None, pure observationnal study

Interventions

None, pure observationnal study OTHER

None, pure observationnal study

Healthy controls; Patients with CANVAS with genetic confirmation; others patients

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Age Groups: Adult (18-64), Older Adult (65+)
• 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).

You may qualify if:

• 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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nīmes: lead

Study Sites (1)

CHU de Nîmes

Nîmes, Choisir Une Région, 30029, France

Location

Related Publications (7)

• Fabri G, Brandi G, Altieri A, Bernardini P, Di Donna V, Falappa PG. [Analysis and the respiratory risks in a cement plant]. Ann Ist Super Sanita. 1981;17(3):581-6. No abstract available. Italian.

  PMID: 6918204 RESULT

• Weber KP, MacDougall HG, Halmagyi GM, Curthoys IS. Impulsive testing of semicircular-canal function using video-oculography. Ann N Y Acad Sci. 2009 May;1164:486-91. doi: 10.1111/j.1749-6632.2008.03730.x.

  PMID: 19645955 RESULT

• Larrazabal AJ, Garcia Cena CE, Martinez CE. Video-oculography eye tracking towards clinical applications: A review. Comput Biol Med. 2019 May;108:57-66. doi: 10.1016/j.compbiomed.2019.03.025. Epub 2019 Mar 30.

  PMID: 31003180 RESULT

• Gorges M, Pinkhardt EH, Kassubek J. Alterations of eye movement control in neurodegenerative movement disorders. J Ophthalmol. 2014;2014:658243. doi: 10.1155/2014/658243. Epub 2014 May 18.

  PMID: 24955249 RESULT

• Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): a review of the clinical features and video-oculographic diagnosis. Ann N Y Acad Sci. 2011 Sep;1233:139-47. doi: 10.1111/j.1749-6632.2011.06158.x.

  PMID: 21950986 RESULT

• Cortese A, Reilly MM, Houlden H. RFC1 CANVAS / Spectrum Disorder. 2020 Nov 25. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK564656/

  PMID: 33237689 RESULT

• Szmulewicz DJ, Waterston JA, Halmagyi GM, Mossman S, Chancellor AM, McLean CA, Storey E. Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome. Neurology. 2011 May 31;76(22):1903-10. doi: 10.1212/WNL.0b013e31821d746e.

  PMID: 21624989 RESULT

MeSH Terms

Conditions

Cerebellar Ataxia

Condition Hierarchy (Ancestors)

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

Study Officials

• Anissa MEGZARI

  Centre Hospitalier Universitaire de Nīmes

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 4, 2022
• First Posted: March 14, 2022
• Study Start: March 15, 2022
• Primary Completion: March 15, 2023
• Study Completion: March 15, 2023
• Last Updated: March 8, 2024

Record last verified: 2024-03

Locations

FR (1)