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Recruiting Not applicable

Evaluation of Urinary Dysfunction in CANVAS Patients

NCT06817707 · tracked via the Priya Life Science France tracker
Phase
Not applicable
Started
2025-03-21
Last updated
2025-03-26

Condition(s) studied

Cerebellar AtaxiaNeuropathyVestibular Areflexia

Investigational drug(s) / intervention(s)

Evaluation of urinary dysfunction in patients with CANVAS

Evaluation of urinary dysfunction in patients with CANVAS: Urinary dysfunction will be evaluated with neurologic exam, interrogation, urinary dairy report, self-questionnaires, biologic analysis, Sudoscan and urological exams

Study 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

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
Inclusion Criteria: * 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 Exclusion Criteria: * 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

Primary outcome measure(s)

  • Evaluate the prevalence of urinary dysfunctions in patients with CANVAS genetically confirmed — at inclusion
    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.

Trial sites (3)

FacilityCityRegionStatus
Nice University Hospital Nice Alpes Maritimes Recruiting
Montpellier University hospital Montpellier Hérault Not Yet Recruiting
Lille University Hospital Lille Nord Not Yet Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06817707 on ClinicalTrials.gov ↗ ← All trials in France