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

Completed

• Conditions: Neuropathy; Cerebellar Ataxia; Neurodegenerative Diseases
• Interventions: Other: No intervention

• Registration Number: NCT05095870
• Lead Sponsor: Centre Hospitalier Universitaire de Nīmes

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2021-10-01
• Study First Submitted QC: 2021-10-15
• Study Start: 2021-10-25
• Study First Posted: 2021-10-27
• Primary Completion: 2022-03-30
• Study Completion: 2022-03-30
• Status Verified: 2022-05
• Last Update Submitted: 2022-05-09
• Last Update Posted: 2022-05-10

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 35

Inclusion Criteria

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

Exclusion Criteria

• Age <18 years
• Chronic polyradiculoneuritis or other demyelinating neuropathy

Control group, inclusion criteria :

Patient with axonal sensory-motor or pure sensory neuropathy confirmed by electro neuromyography, and concordant with the clinic.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
CANVAS Patients	No intervention	Patient with a CANVAS diagnosis with genetic evidence (RFC1+)
control group	No intervention	Patient with axonal sensory-motor or pure sensitive neuropathy confirmed by electroneuromyography

Primary Outcome Measures

Name	Time	Method
superficial radial branch nerve ultrasound	Baseline	Comparison of axial cross-sectional area to Bilateral exploration of superficial radial branch nerve ultrasound
superficial fibular nerve ultrasound	Baseline	Comparison of axial cross-sectional area to Bilateral exploration of superficial fibular nerve ultrasound
tibial ultrasound	Baseline	Comparison of axial cross-sectional area to Bilateral exploration of tibial nerveat ankle ultrasound
median ultrasound	Baseline	Comparison of axial cross-sectional area to Bilateral exploration of median nerve ultrasound
elbow ultrasound	baseline	Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve, elbow, ultrasound
sural nerve ultrasound	Baseline	Comparison of axial cross-sectional area to Bilateral exploration of sural nerve ultrasound
radial nerve ultrasound	Baseline	Comparison of axial cross-sectional area to Bilateral exploration of radial nerve ultrasound
C5, C6 ultrasound	Baseline	Comparison of axial cross-sectional area to Bilateral exploration of C5, C6 roots ultrasound
ultrasound	Day of the evaluation	Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve, mid-forearm, ultrasound
fibular ultrasound	Baseline	Comparison of axial cross-sectional area to Bilateral exploration of fibular nerve at the neck ultrasound
ulnar nerve at wrist ultrasound	Baseline	Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve at wrist, ultrasound
mid-arm ultrasound	Baseline	Comparison of axial cross-sectional area to Bilateral exploration of ulnar nerve, mid-arm, ultrasound
popliteus ultrasound	Baseline	Comparison of axial cross-sectional area to Bilateral exploration of popliteus tibial nerve at ankle ultrasound

Trial Locations

Locations (1)

CHU de Nîmes; 🇫🇷 Nîmes, France