Evaluation of Urinary Dysfunction in CANVAS Patients

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

40 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-03-21

Study Completion Date

2027-03-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Validation of the RADIAL Algorithm for Diagnosis of Autosomal Recessive Cerebellar Ataxia

NCT04261127

Autosomal Recessive Cerebellar Ataxia

RECRUITING NA

Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France

NCT02887781

Tuberous Sclerosis Complex

RECRUITING

Podocyturia - Predictor of Renal Dysfunction in Fabry Nephropathy

NCT02994303

Fabry Disease

UNKNOWN

Investigation of Urinary Biomarkers for the Diagnosis of Insulin Resistance

NCT04010903

Insulin Resistance

COMPLETED NA

Establishing Novel Detection Techniques for Various Genetic-Related Diseases by Applying DHPLC Platform.

NCT00154960

Spinal Muscular Atrophy Neonatal Hyperbilirubinemia Colon Cancer

UNKNOWN

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Cerebellar Ataxia Neuropathy Vestibular Areflexia

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

Patients with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)

Group Type EXPERIMENTAL

Evaluation of urinary dysfunction in patients with CANVAS

Intervention Type OTHER

Urinary dysfunction will be evaluated with neurologic exam, interrogation, urinary dairy report, self-questionnaires, biologic analysis, Sudoscan and urological exams

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

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

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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

Minimum Eligible Age

18 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No