Clinical trial NCT06817707: Evaluation of Urinary Dysfunction in CANVAS Patients
Official title: Evaluation of Urinary Dysfunction in CANVAS Patients
Study type: INTERVENTIONAL
Overall status: RECRUITING
Phase: NA
Conditions: Cerebellar Ataxia
Neuropathy
Vestibular Areflexia
Lead sponsor: Centre Hospitalier Universitaire de Nice
Sponsor class: OTHER
First posted: 2025-02-10
Enrollment: 40
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: DIAGNOSTIC

Brief 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 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 outcomes:
measure: Evaluate the prevalence of urinary dysfunctions in patients with CANVAS genetically confirmed
timeFrame: at inclusion
Secondary outcomes:
measure: Characterise the type of urinary dysfunctions
timeFrame: at inclusion
measure: Characterise the severity of each type of urinary dysfunctions
timeFrame: at inclusion
measure: Characterise the impact of urinary dysfunctions on patient's quality of life
timeFrame: at inclusion
measure: Assess the prevalence of different types of urinary dysfunctions
timeFrame: at inclusion
measure: Assess the prevalence of biological complications in the upper urinary tract
timeFrame: at inclusion
measure: Assess the prevalence of structural complications in the upper urinary tract
timeFrame: within 6 months after inclusion
measure: Assess prevalence of urinary flow malfunction
timeFrame: within 6 months after inclusion
measure: Assess prevalence of dysautonomia
timeFrame: at inclusion
measure: Assess the prevalence of dysautonomia symptoms
timeFrame: at inclusion
measure: Assess the relationship between urinary dysfunction and presence of dysautonomia
timeFrame: at inclusion
measure: Assess the relationship between severity of neurological dysfunction and dysautonomia
timeFrame: at inclusion
measure: Assess the relationship between urinary dysfunction and severity of neurological dysfunction
timeFrame: at inclusion
Other outcomes:
Locations:
city: Nice
country: France
facility: Nice University Hospital
state: Alpes Maritimes
city: Montpellier
country: France
facility: Montpellier University hospital
state: Hérault
city: Lille
country: France
facility: Lille University Hospital
state: Nord
Study officials:
References: