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Recruiting NCT06817707

Evaluation of Urinary Dysfunction in CANVAS Patients

No phase Interventional Cerebellar Ataxia Neuropathy Vestibular Areflexia

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: Evaluation of urinary dysfunction in patients with CANVAS.
Who it may be relevant to
Registry conditions: Cerebellar Ataxia, Neuropathy, Vestibular Areflexia. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Overview

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.

Interventions

  • Other 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

Primary outcome measures

  • Evaluate the prevalence of urinary dysfunctions in patients with CANVAS genetically confirmed [Time frame: at inclusion]
Secondary outcome measures (12)
  • Characterise the type of urinary dysfunctions [Time frame: at inclusion]
  • Characterise the severity of each type of urinary dysfunctions [Time frame: at inclusion]
  • Characterise the impact of urinary dysfunctions on patient's quality of life [Time frame: at inclusion]
  • Assess the prevalence of different types of urinary dysfunctions [Time frame: at inclusion]
  • Assess the prevalence of biological complications in the upper urinary tract [Time frame: at inclusion]
  • Assess the prevalence of structural complications in the upper urinary tract [Time frame: within 6 months after inclusion]
  • Assess prevalence of urinary flow malfunction [Time frame: within 6 months after inclusion]
  • Assess prevalence of dysautonomia [Time frame: at inclusion]
  • Assess the prevalence of dysautonomia symptoms [Time frame: at inclusion]
  • Assess the relationship between urinary dysfunction and presence of dysautonomia [Time frame: at inclusion]
  • Assess the relationship between severity of neurological dysfunction and dysautonomia [Time frame: at inclusion]
  • Assess the relationship between urinary dysfunction and severity of neurological dysfunction [Time frame: at inclusion]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Allocation
N/A
Model
Single group
Masking
Open label
Primary purpose
Diagnostic

Study locations

France · 3 centers
  • Nice University Hospital — Nice
  • Montpellier University hospital — Montpellier
  • Lille University Hospital — Lille

Identifiers

NCT: NCT06817707 · 23-AOIP-04

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗