Evaluation of Urinary Dysfunction in CANVAS Patients

Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorCentre Hospitalier Universitaire de Nice

About this trial

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 criteria

Qualifiers

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;

Disqualifiers

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

Trial design

Treatments tested in this trial

  • Evaluation of urinary dysfunction in patients with CANVAS

Treatment groups

40 Participants
are divided into 1 treatment group