Pathogenic Insights and Search for Biomarkers in RFC1-ataxia/CANVAS
ConditionCANVAS Syndrome
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18-80
SponsorCatholic University of the Sacred Heart
About this trial
CANVAS (Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome), also referred to as RFC1-ataxia, is a recently molecularly characterized neurodegenerative disorder caused by a biallelic expansion of an AAGGG pentanucleotide repeat in intron 2 of the Replication Factor C subunit 1 (RFC1) gene.
This adult-onset condition presents with a variable combination of cerebellar ataxia, peripheral neuropathy, and vestibular dysfunction. Currently, limited data are available regarding its natural history and the molecular mechanisms by which this dynamic mutation leads to neurodegeneration of selective neuronal populations.
Given that recent literature identifies RFC1/CANVAS as a relatively common genetic cause of late-onset ataxia, elucidation of its underlying pathogenic mechanisms may offer insights into the molecular pathways implicated in more prevalent late-onset neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
Molecular diagnosis of RFC1-ataxia
age >18 years and <80 years
ability to sign informed consent
Disqualifiers
Diagnosis of other degenerative and/or non-degenerative neurological diseases
Not signed informed consent
Trial design
Design model
Parallel
Treatments tested in this trial
Assessment of markers of oxidative stress in peripheral blood samples
Other interventionParticipants will perform serial blood samples at interval of 12 months to compare levels of markers of oxidative stress
Treatment groups
50 Participants
are divided into 2 treatment groupsGroup A: CANVAS patientsOther 1 intervention
Group B: Healthy controlsActive comparator 1 intervention
Trial outcomes
Primary outcomes
1
Scale for the Assessment and Rating of Ataxia (SARA) scale
SARA is a clinical scale validated in degenerative ataxias, which assesses a range of different impairments related to cerebellar dysfunction. The scale is made up of 8 items related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test ; Each item scores from 0 ( no impairment) to 4 ( maximum impairment) Global SARA score ranges from 0 (no cerebellar ataxia ) to 40 (maximal severity of ataxia )
Time frame
1 year2
INTERNATIONAL CO-OPERATIVE ATAXIA RATING SCALE (ICARS)
ICARS is another, recommended outcome scale for cerebellar ataxias, including 19 items and 4 subscales evaluating postural and gait disturbances, limb ataxia, dysarthria, and oculomotor disorders (14); Each subscale has an ordinal scale with 0 indicating normal and the higher score indicating greatest impairment or that the patient is unable to complete the task. Global score ranges from 0 to 100 : higher score indicates greater impairment
Time frame
1 year3
SENSORY ATAXIA RATING SCALE (SEARS)
SEARS is a 10-item functional scale developed and validated to cover the clinical spectrum of manifestations in patients with sensory neuronopathies. It has been validated for any forms of sensory ataxia, including 10-meter walking test (10mWT) to assess gait speed. Scores range from 0 (no impairment) to 41 (maximal impairment)
Time frame
1 year4
Berg Balance Scale (BBS)
BBS for balance assessment is an ordinal scale ranging from 0 to 56, consisting of 13 items with a score from 0 to 4 where 0 is the minimum performance and 4 is the maximum performance regarding the item required. This scale mainly evaluates the static balance and minimally the dynamic
Time frame
1 yearSponsors and contacts
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Source ClinicalTrials.gov