Evaluation of Urinary Dysfunction in CANVAS Patients

Обзор

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.

Вмешательства

• Другое 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

Первичные конечные точки

• Evaluate the prevalence of urinary dysfunctions in patients with CANVAS genetically confirmed [Срок оценки: at inclusion]

Вторичные конечные точки (12)

• Characterise the type of urinary dysfunctions [Срок оценки: at inclusion]
• Characterise the severity of each type of urinary dysfunctions [Срок оценки: at inclusion]
• Characterise the impact of urinary dysfunctions on patient's quality of life [Срок оценки: at inclusion]
• Assess the prevalence of different types of urinary dysfunctions [Срок оценки: at inclusion]
• Assess the prevalence of biological complications in the upper urinary tract [Срок оценки: at inclusion]
• Assess the prevalence of structural complications in the upper urinary tract [Срок оценки: within 6 months after inclusion]
• Assess prevalence of urinary flow malfunction [Срок оценки: within 6 months after inclusion]
• Assess prevalence of dysautonomia [Срок оценки: at inclusion]
• Assess the prevalence of dysautonomia symptoms [Срок оценки: at inclusion]
• Assess the relationship between urinary dysfunction and presence of dysautonomia [Срок оценки: at inclusion]
• Assess the relationship between severity of neurological dysfunction and dysautonomia [Срок оценки: at inclusion]
• Assess the relationship between urinary dysfunction and severity of neurological dysfunction [Срок оценки: at inclusion]

Критерии участия

Критерии включения

• 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

Критерии исключения

• 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

Критерии приведены из реестра в оригинале (на английском). Окончательную оценку соответствия проводит исследовательский центр.

Здоровые добровольцы: Нет

Дизайн исследования

Распределение

Не применимо

Модель

Одна группа

Маскирование

Открытое

Основная цель

Диагностика

Центры проведения

Франция · 3 центра

• Nice University Hospital — Nice
• Montpellier University hospital — Montpellier
• Lille University Hospital — Lille

Идентификаторы

NCT: NCT06817707 · 23-AOIP-04

Первоисточники (государственные реестры)

• ClinicalTrials.gov (NIH, США)

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