Evaluation of Urinary Dysfunction in CANVAS Patients

Status: Recruiting
Location: See all (3) locations...
Intervention Type: Other
Study Type: Interventional
Study Phase: Not Applicable
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 18
Healthy Volunteers: f
View:

• 18 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

Locations
Other Locations
France
Lille University Hospital
NOT_YET_RECRUITING
Lille
Montpellier University hospital
NOT_YET_RECRUITING
Montpellier
Nice University Hospital
RECRUITING
Nice
Contact Information
Primary
Andra EZARU
ezaru.a@chu-nice.fr
04 92 03 96 55
Time Frame
Start Date: 2025-03-21
Estimated Completion Date: 2027-03
Participants
Target number of participants: 40
Treatments
Experimental: Patients with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)
Sponsors
Leads: Centre Hospitalier Universitaire de Nice

This content was sourced from clinicaltrials.gov