Evaluation of the Peripheral Nerve Ultrasound as a Diagnostic Tool in CANVAS Neuropathies

NCT05095870 | Completed

• 1 other identifier: LOCAL/2021/II-02
• Study Type: observational
• Target: 35
• Locations: 1 country
• Sites: 1

Brief Summary

Cerebellar ataxia with neuropathy and bilateral areflexia syndrome (CANVAS) is a late onset neurodegenerative disorder with a slowly progressive ataxia. It's genetic causative etiology with an autosomal recessive inheritance has a recent discovery. It is clinically characterized by impaired visually enhanced vestibulo-ocular reflex, although patients commonly present with imbalance as a main concern, associated with sensory complaints. It has been demonstrated that sensory impairment in CANVAS patients is due to degeneration of dorsal root with abnormal sensory nerve conduction. Previously defined diagnostic criteria included cerebellar atrophy on brain MRI, neuronopathy on electrophysiological studies and negative genetic testing for other inherited ataxia syndromes like Friedriech ataxia and spinal cerebellar ataxia (SCA). Peripheral nerve ultrasound is a noninvasive technique, able to identify abnormal peripheral nerves with underlying injuries and specific sonographic characteristics. Pelosi et al established that patients with CANVAS have a smaller nerve cross sectional area (CSA) compared to healthy individuals and/ or axonal neuropathies. The main objective of this study was to obtaine a detailed description of peripheral nerves in consecutive patients with CANVAS syndrome followed in theneurology department of the Universitary Hospital of Nimes (France), using conventional electrophysiology and peripheral nerve ultrasound.

Conditions

Neuropathy; Cerebellar Ataxia; Neurodegenerative Diseases

Outcome Measures

Primary Outcomes (13)

• median ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of median nerve ultrasound

  Baseline

• ulnar nerve at wrist ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve at wrist, ultrasound

  Baseline

• mid-arm ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve, mid-arm, ultrasound

  Baseline

• elbow ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve, elbow, ultrasound

  baseline

• ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve, mid-forearm, ultrasound

  Day of the evaluation

• radial nerve ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of radial nerve ultrasound

  Baseline

• superficial radial branch nerve ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of superficial radial branch nerve ultrasound

  Baseline

• C5, C6 ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of C5, C6 roots ultrasound

  Baseline

• sural nerve ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of sural nerve ultrasound

  Baseline

• superficial fibular nerve ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of superficial fibular nerve ultrasound

  Baseline

• popliteus ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of popliteus tibial nerve at ankle ultrasound

  Baseline

• tibial ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of tibial nerveat ankle ultrasound

  Baseline

• fibular ultrasound

  Comparison of axial cross-sectional area to Bilateral exploration of fibular nerve at the neck ultrasound

  Baseline

Study Arms (2)

CANVAS Patients

Patient with a CANVAS diagnosis with genetic evidence (RFC1+)

Other: No intervention

control group

Patient with axonal sensory-motor or pure sensitive neuropathy confirmed by electroneuromyography

Other: No intervention

Interventions

No intervention OTHER

Pure observational study

CANVAS Patients; control group

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

consecutive patients with CANVAS syndrome followed in our neurology department, using conventional electrophysiology and peripheral nerve ultrasound.

You may qualify if:

• Patients followed at the University Hospital of Nîmes between 2018-2021
• Age \> 18 years
• Diagnosis of CANVAS with genetic evidence (RFC1+)
• Diagnosis of neuronopathy

You may not qualify if:

• Age \<18 years
• Chronic polyradiculoneuritis or other demyelinating neuropathy
• Patient with axonal sensory-motor or pure sensory neuropathy confirmed by electro neuromyography, and concordant with the clinic.

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nīmes: lead

Study Sites (1)

CHU de Nîmes

Nîmes, 30129, France

Location

Related Publications (1)

• El Houjeiry E, Coudray S, Thouvenot E, Ion IM. Spinal cord lesion mimicking a dysimmune myelitis revealing CANVAS syndrome. J Spinal Cord Med. 2023 Mar;46(2):332-336. doi: 10.1080/10790268.2022.2033936. Epub 2022 Mar 2.

  PMID: 35235501 RESULT

MeSH Terms

Conditions

Cerebellar Ataxia; Neurodegenerative Diseases

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: October 1, 2021
• First Posted: October 27, 2021
• Study Start: October 25, 2021
• Primary Completion: March 31, 2022
• Study Completion: March 31, 2022
• Last Updated: December 4, 2025

Record last verified: 2022-05

Locations

FR (1)