Evaluation of Urinary Dysfunction in CANVAS Patients

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DE NICE · Feb 5, 2025

Keywords

ClinConnect Summary

The clinical trial titled "Evaluation of Urinary Dysfunction in CANVAS Patients" aims to understand how common urinary problems are among individuals diagnosed with CANVAS, which is a condition that affects balance and coordination. Research shows that about one-third of people with CANVAS may experience issues with their urinary system. This study will look at how these urinary problems relate to the severity of the neurological symptoms and other conditions that may affect the nervous system. Participants will undergo various tests, including detailed neurological examinations and ultrasound of the urinary system, to gather important information about their health.

To be eligible for this study, individuals must be at least 18 years old and have a confirmed diagnosis of CANVAS through specific genetic testing. Participants should also be able to complete the required tests and sign a consent form. Women of childbearing age will need to have a negative pregnancy test. The researchers are currently recruiting participants, and those who join can expect to receive thorough evaluations that will help improve understanding and management of urinary dysfunction in people with CANVAS.

Gender

ALL

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