Evaluation of Urinary Dysfunction in CANVAS Patients
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18+
SponsorCentre Hospitalier Universitaire de Nice
About this trial
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
This trial does not accept healthy volunteersQualifiers
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;
Disqualifiers
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
Trial design
Design model
Single group
Treatments tested in this trial
Evaluation of urinary dysfunction in patients with CANVAS
Other interventionUrinary dysfunction will be evaluated with neurologic exam, interrogation, urinary dairy report, self-questionnaires, biologic analysis, Sudoscan and urological exams
Treatment groups
40 Participants
are divided into 1 treatment groupGroup A: Patients with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome (CANVAS)Experimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
Evaluate the prevalence of urinary dysfunctions in patients with CANVAS genetically confirmed
The percentage of participants with urinary symptoms will be calculated by multiplying the number of participants with a USP (Urinary Symptom Profile) score greater than of equal to 1 by the total number of subjects included in the study, multiplied by 100. USP self-questionnaire was developped by the French Association of Urology. It aims to assess the symptoms of low urinary tract symptoms (LUTS) in men and women. It contains 13 items that assess stress urinary incontinence, bladder hyperreactivity and dysuria.
Time frame
at inclusionSecondary outcomes
1
Characterise the type of urinary dysfunctions
To characterize the type of urinary dysfunctions (urinary incontinence, dysuria, bladder hyperactivity (urgent or pollakiuria)), we will use the answers to the USP (Urinary Symptom Profile) self-questionnaire. USP self-questionnaire was developped by the French Association of Urology. It aims to assess the symptoms of low urinary tract symptoms (LUTS) in men and women. It contains 13 items that assess stress urinary incontinence, bladder hyperreactivity and dysuria.
Time frame
at inclusion2
Characterise the severity of each type of urinary dysfunctions
To characterize the degree of severity of urinary dysfunctions (mild, moderate, severe), we will use the answers to the IPSS (International Prostate Symptom Score) self-questionnaire. This questionnaire is a screening tool, which helps with the diagnosis and monitoring of symptoms of benign prostatic hypertrophy (BPH). It consists of 7 questions on urinary difficulties and one question on quality of life. Questions include: incomplete bladder emptying, frequency of urination, intermittent urination (stop and restart), urge to urinate (feeling "urgent"), low jet, effort to urinate (force or push), nycturia. Each question refers to the last month and has a score of 1 to 5, for a total of 35 points maximum. Patients can be classified according to the severity of symptoms: from 0 to 7 = low symptomatic; 8 to 19 = moderately symptomatic; from 20 to 35 = severe symptoms.
Time frame
at inclusion3
Characterise the impact of urinary dysfunctions on patient's quality of life
To characterize the impact of urinary dysfunctions on patient's quality of life, we will use the SF-Qualiveen urological self-questionnaire. This questionnaire was developed to specifically and rapidly assess the impact on quality of life of urinary disorders in patients with a neurological bladder. Its initial validation was performed in patients with multiple sclerosis. This rapid form of the Qualiveen scale has 8 items evaluating 4 domains: discomfort, constraints, fears and patient experience. Each item is rated from 0 to 4
Time frame
at inclusion4
Assess the prevalence of different types of urinary dysfunctions
To calculate the prevalence of each type of urinary dysfunctions (urinary incontinence, dysuria, bladder hyperactivity (urgent or pollakiuria)), the percentage of participants with each type of impairment will be calculated as the ratio between the number of subjects in each group of impairment and the total number of participants with a USP score greater than or equal to 1, multiplied by 100.
Time frame
at inclusionSponsors and contacts
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Source ClinicalTrials.gov