Actively Recruiting
Evaluation of Urinary Dysfunction in CANVAS Patients
Led by Centre Hospitalier Universitaire de Nice · Updated on 2025-03-26
40
Participants Needed
3
Research Sites
101 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Evaluation of Urinary Dysfunction in CANVAS Patients
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- 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
AI-Screening
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Trial Site Locations
Total: 3 locations
1
Nice University Hospital
Nice, Alpes Maritimes, France, 06000
Actively Recruiting
2
Montpellier University hospital
Montpellier, Hérault, France, 34000
Not Yet Recruiting
3
Lille University Hospital
Lille, Nord, France, 59000
Not Yet Recruiting
Research Team
A
Andra EZARU
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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