Evaluation of Urinary Dysfunction in CANVAS Patients
Centre Hospitalier Universitaire de Nice
40 participants
Mar 21, 2025
INTERVENTIONAL
Conditions
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
Inclusion Criteria6
- 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
Exclusion Criteria5
- 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
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Interventions
Urinary dysfunction will be evaluated with neurologic exam, interrogation, urinary dairy report, self-questionnaires, biologic analysis, Sudoscan and urological exams
Locations(3)
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NCT06817707