Clinical trial NCT05095870: Evaluation of the Peripheral Nerve Ultrasound as a Diagnostic Tool in CANVAS Neuropathies
Official title: Evaluation of the Peripheral Nerve Ultrasound as a Diagnostic Tool in CANVAS (Cerebellar Ataxia With Neuropathy and Vestibular Areflexia Syndrome) Neuronopathies
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Neuropathy
Cerebellar Ataxia
Neurodegenerative Diseases
Lead sponsor: Centre Hospitalier Universitaire de Nīmes
Sponsor class: OTHER
First posted: 2021-10-27
Enrollment: 35
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: consecutive patients with CANVAS syndrome followed in our neurology department, using conventional electrophysiology and peripheral nerve ultrasound.

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.


Eligibility criteria: CANVAS Patients :

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.

Primary outcomes:
measure: median ultrasound
timeFrame: Baseline
measure: ulnar nerve at wrist ultrasound
timeFrame: Baseline
measure: mid-arm ultrasound
timeFrame: Baseline
measure: elbow ultrasound
timeFrame: baseline
measure: ultrasound
timeFrame: Day of the evaluation
measure: radial nerve ultrasound
timeFrame: Baseline
measure: superficial radial branch nerve ultrasound
timeFrame: Baseline
measure: C5, C6 ultrasound
timeFrame: Baseline
measure: sural nerve ultrasound
timeFrame: Baseline
measure: superficial fibular nerve ultrasound
timeFrame: Baseline
measure: popliteus ultrasound
timeFrame: Baseline
measure: tibial ultrasound
timeFrame: Baseline
measure: fibular ultrasound
timeFrame: Baseline
Secondary outcomes:
Other outcomes:
Locations:
city: Nîmes
country: France
facility: CHU de Nîmes
Study officials:
affiliation: Centre Hospitalier Universitaire de Nīmes
name: Anissa MEGZARI
role: STUDY_DIRECTOR
References: