Cerebellar AtaxiaVOG-NeuropatNCT05278091
Evaluation of the Diagnostic Value of Video-oculography in CANVAS Neuronopathies
An observational study of Cerebellar Ataxia, run by Centre Hospitalier Universitaire de Nīmes at 1 site in France.
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). Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Cerebellar Ataxia
- What is being tested?
- None, pure observationnal study
- How many people
- 56 participants
- Where
- 1 siteFrance
- Study dates
- 15 Mar 2022to 15 Mar 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Adult, Older adult
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).
Who may be able to join
- 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
Who cannot join
None listed.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Evaluation of the Diagnostic Value of Video-oculography in CANVAS (Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome) 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.
Read more
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
- Being tested
- None, pure observationnal study
- Medical subject headings
- Cerebellar Ataxia
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
None, pure observationnal studyOther
None, pure observationnal study
| Study group | Role | What they receive |
|---|---|---|
| Patients with CANVAS with genetic confirmation | Patients with CANVAS with genetic confirmation (RFC1 gene mutation) Receives: Other: None, pure observationnal study | |
| others patients | Patients with axonal neuropathy, autoimmune neuronopathy and anti-MAG neuropathy Receives: Other: None, pure observationnal study | |
| Healthy controls | Patients without CANVAS or other neuropathy Receives: Other: None, pure observationnal study |
What is being measured
The primary outcome is the main question the study is designed to answer.
jerky pursuits
Comparison of video oculography results (saccadic pursuits) of patients with a diagnosis of CANVAS with those of the other groups
Measured: 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
Measured: 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
Measured: 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
Measured: Baseline, Day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Mar 2022
- Study start15 Mar 2022
- Primary completion15 Mar 2023
- Study completion15 Mar 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (7)Papers the sponsor has linked to this study.
- Other trials for Cerebellar AtaxiaStudies of the same condition, open and under way.
- More trials run by Centre Hospitalier Universitaire de NīmesThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 56 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nīmes
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Anissa MEGZARI, Study director, Centre Hospitalier Universitaire de Nīmes
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05278091
- Sponsor's protocol ID
- Local/2022/II-02
- Acronym
- VOG-Neuropat
- Status last verified
- Mar 2024
- First submitted
- 4 Mar 2022
- Last updated
- 8 Mar 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
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.
PubMed 6918204Weber 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.
PubMed 19645955Larrazabal 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.
PubMed 31003180Gorges 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.
PubMed 24955249Szmulewicz 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.
PubMed 21950986Cortese A, Reilly MM, Houlden H. RFC1 CANVAS / Spectrum Disorder. 2020 Nov 25. In: Adam MP, Bick S, Mirzaa GM, 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/
PubMed 33237689Szmulewicz 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.
PubMed 21624989
Study at a glance
From the registry record, last updated by the sponsor on 8 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Evaluation of the Diagnostic Value of Video-oculography in CANVAS (Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome) Neuronopathies
- ClinicalTrials.gov ID
- NCT05278091
- Acronym / sponsor ID
- VOG-Neuropat / Local/2022/II-02
- Conditions
- Cerebellar Ataxia
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 56 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de NīmesUniversity, hospital or other
- Study start
- 15 Mar 2022 (actual)
- Primary completion
- 15 Mar 2023 (actual)
- Study completion
- 15 Mar 2023 (actual)
- First posted
- 14 Mar 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Patients with CANVAS with genetic confirmation | – | Other: None, pure observationnal studyPatients with CANVAS with genetic confirmation (RFC1 gene mutation) |
| others patients | – | Other: None, pure observationnal studyPatients with axonal neuropathy, autoimmune neuronopathy and anti-MAG neuropathy |
| Healthy controls | – | Other: None, pure observationnal studyPatients without CANVAS or other neuropathy |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Age groups
- Adult, Older adult
- 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).
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| None, pure observationnal studyNone, pure observationnal study | Other | Healthy controls, Patients with CANVAS with genetic confirmation, others patients |
Primary outcome
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
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
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
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Mar 2024.
- Results publication: PubMed 6918204Fabri 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.
- Results publication: PubMed 19645955Weber 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.
- Results publication: PubMed 31003180Larrazabal 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.
- Results publication: PubMed 24955249Gorges 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.
- Results publication: PubMed 21950986Szmulewicz 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.
- Results publication: PubMed 33237689Cortese A, Reilly MM, Houlden H. RFC1 CANVAS / Spectrum Disorder. 2020 Nov 25. In: Adam MP, Bick S, Mirzaa GM, 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/
- Results publication: PubMed 21624989Szmulewicz 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Anissa MEGZARI study director
Centre Hospitalier Universitaire de Nīmes
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cerebellar Ataxia, run by Centre Hospitalier Universitaire de Nīmes at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
jerky pursuits (time frame: Baseline, Day 0). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05278091, which also lists 7 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Mar 2024.