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

Cerebellar Ataxia Clinical Trial

— VOG-Neuropat  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05278091
• Other study ID #: Local/2022/II-02
• Status: Completed
• Start date: March 15, 2022
• Est. completion date: March 15, 2023

Study information

• Verified date: March 2024
• Source: Centre Hospitalier Universitaire de Nimes
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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).

Recruitment information / eligibility

• Status: Completed
• Enrollment: 56
• Est. completion date: March 15, 2023
• Est. primary completion date: March 15, 2023
• Gender: All
• Age group: 18 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Ataxia
• Cerebellar Ataxia

Intervention

Other:
• None, pure observationnal study
None, pure observationnal study

Locations

Country	Name	City	State
France	CHU de Nîmes	Nîmes	Choisir Une Région

Sponsors (1)

Lead Sponsor	Collaborator
Centre Hospitalier Universitaire de Nimes

Country where clinical trial is conducted

France, 

References & Publications (7)

Cortese A, Reilly MM, Houlden H. RFC1 CANVAS / Spectrum Disorder. 2020 Nov 25. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 199 — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

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 — View Citation

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-oculographi — View Citation

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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
Primary	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
Primary	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
Primary	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