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Evaluation of Urinary Dysfunction in CANVAS Patients

RecruitingNAAges 18 Years - anyAllCentre Hospitalier Universitaire de Nice
NCT06817707 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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 w

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📋 Eligibility rules (as published)
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
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What it tests

  • Evaluation of urinary dysfunction in patients with CANVAS
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Where

3 sites
Nice University Hospital
Nice, France
Montpellier University hospital
Montpellier, France
Lille University Hospital
Lille, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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