Evaluation of Urinary Dysfunction in CANVAS Patients

NCT06817707 | Recruiting

• 1 other identifier: 23-AOIP-04
• Study Type: interventional
• Target: 40
• Locations: 1 country
• Sites: 3

Brief Summary

The investigator wishes to evaluate the prevalence of urinary symptoms in patients diagnosed with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS). As much as one third of patients living with CANVAS experience symptoms of urinary system dysfunction. The primary objective of this study is to evaluate the incidence of urinary symptoms in these patients, as well as the potential complications that might occur at the level of the upper and lower urinary system. The investigator also wishes to analyse the connection between the severity of the neurological deficits, the presence of dysautonomia and the presence of urinary dysfunction. To that end, the data collected in the study will concern : a detailed neurological examination including SARA (Scale for the assessement and rating of ataxia) scale assessement, laboratory tests of the renal function, dysautonomia tests with Sudoscan and research of orthostatic hypotension, urinary function questionnaires, dysautonomia questionnaire, urodynamic tests and urinary system ultrasound.

Conditions

Cerebellar Ataxia; Neuropathy; Vestibular Areflexia

Outcome Measures

Primary Outcomes (1)

• Evaluate the prevalence of urinary dysfunctions in patients with CANVAS genetically confirmed

  The percentage of participants with urinary symptoms will be calculated by multiplying the number of participants with a USP (Urinary Symptom Profile) score greater than of equal to 1 by the total number of subjects included in the study, multiplied by 100. USP self-questionnaire was developped by the French Association of Urology. It aims to assess the symptoms of low urinary tract symptoms (LUTS) in men and women. It contains 13 items that assess stress urinary incontinence, bladder hyperreactivity and dysuria.

  at inclusion

Secondary Outcomes (12)

• Characterise the type of urinary dysfunctions

  at inclusion

• Characterise the severity of each type of urinary dysfunctions

  at inclusion

• Characterise the impact of urinary dysfunctions on patient's quality of life

  at inclusion

• Assess the prevalence of different types of urinary dysfunctions

  at inclusion

• Assess the prevalence of biological complications in the upper urinary tract

  at inclusion

Study Arms (1)

Patients with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)

EXPERIMENTAL

Other: Evaluation of urinary dysfunction in patients with CANVAS

Interventions

Evaluation of urinary dysfunction in patients with CANVAS OTHER

Urinary dysfunction will be evaluated with neurologic exam, interrogation, urinary dairy report, self-questionnaires, biologic analysis, Sudoscan and urological exams

Patients with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)

Eligibility Criteria

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

You may qualify if:

• years old and more
• genetic confirmation of CANVAS (presence of pathogenic penta nucleotide expansion in both alleles of the replication factor C subunit 1(RFC1) gene or pathological penta nucleotide expansion in the heterozygous state associated with a truncating mutation on the second allele of the RFC1 gene)
• Able to undergo renovesical ultrasound and urinary flow measurement;
• Having given informed consent in writing;
• Negative pregnancy test for people on childbearing age;
• Social security affiliated

You may not qualify if:

• Presenting another urological pathology of base, not related to CANVAS;
• Having undergone a urological intervention within the 6 months preceding the screening visit;
• Presenting a condition that is incompatible with the proper conduct of the study as determined by the physician;
• Protected by law under guardianship or curators, or not able to participate in a clinical study pursuant to article L. 1121-16 of the French Public Health Code
• Pregnant or breastfeeding women for women of childbearing age

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (3)

Nice University Hospital

Nice, Alpes Maritimes, 06000, France

RECRUITING

Montpellier University hospital

Montpellier, Hérault, 34000, France

NOT YET RECRUITING

Lille University Hospital

Lille, Nord, 59000, France

NOT YET RECRUITING

MeSH Terms

Conditions

Cerebellar Ataxia; Bilateral Vestibulopathy

Interventions

CANVAS syndrome

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; Vestibular Diseases; Labyrinth Diseases; Ear Diseases; Otorhinolaryngologic Diseases

Central Study Contacts

Andra EZARU

CONTACT

04 92 03 96 55; ezaru.a@chu-nice.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: February 5, 2025
• First Posted: February 10, 2025
• Study Start: March 21, 2025
• Primary Completion (Estimated): March 1, 2027
• Study Completion (Estimated): March 1, 2027
• Last Updated: March 26, 2025

Record last verified: 2025-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (3)