Evaluation of Urinary Dysfunction in CANVAS Patients

Last updated: March 25, 2025
Sponsor: Centre Hospitalier Universitaire de Nice
Overall Status: Active - Recruiting

Phase

N/A

Condition

Neuropathy

Spinocerebellar Disorders

Dyskinesias

Treatment

Evaluation of urinary dysfunction in patients with CANVAS

Clinical Study ID

NCT06817707
23-AOIP-04
  • Ages > 18
  • All Genders

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 Criteria

Inclusion

Inclusion Criteria:

  • 18 years old and more

  • genetic confirmation of CANVAS (presence of pathogenic penta nucleotide expansion inboth alleles of the replication factor C subunit 1(RFC1) gene or pathological pentanucleotide expansion in the heterozygous state associated with a truncating mutationon 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

Exclusion Criteria:

  • Presenting another urological pathology of base, not related to CANVAS;

  • Having undergone a urological intervention within the 6 months preceding thescreening visit;

  • Presenting a condition that is incompatible with the proper conduct of the study asdetermined by the physician;

  • Protected by law under guardianship or curators, or not able to participate in aclinical study pursuant to article L. 1121-16 of the French Public Health Code

  • Pregnant or breastfeeding women for women of childbearing age

Study Design

Total Participants: 40
Treatment Group(s): 1
Primary Treatment: Evaluation of urinary dysfunction in patients with CANVAS
Phase:
Study Start date:
March 21, 2025
Estimated Completion Date:
March 31, 2027

Connect with a study center

  • Nice University Hospital

    Nice, Alpes Maritimes 06000
    France

    Active - Recruiting

  • Montpellier University hospital

    Montpellier, Hérault 34000
    France

    Site Not Available

  • Lille University Hospital

    Lille, Nord 59000
    France

    Site Not Available

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