Searching for causes and blood biomarkers in RFC1‑ataxia (CANVAS)
Pathogenic Insights and Search for Biomarkers in RFC1-ataxia/CANVAS: a Model to a Deeper Understanding of Molecular Mechanisms Underlying Late-onset Neurodegeneration
NA · Catholic University of the Sacred Heart · NCT07156214
This project will test whether clinical rating scales, blood markers of oxidative stress, and patient-derived cell models can help track disease progression and reveal biological causes in adults with genetically confirmed RFC1‑ataxia (CANVAS).
Quick facts
| Phase | NA |
|---|---|
| Study type | Interventional |
| Enrollment | 50 (estimated) |
| Ages | 18 Years to 80 Years |
| Sex | All |
| Sponsor | Catholic University of the Sacred Heart (other) |
| Locations | 2 sites (Bologna and 1 other locations) |
| Trial ID | NCT07156214 on ClinicalTrials.gov |
What this trial studies
This is a longitudinal, observational cohort of approximately 25 adults with a molecular diagnosis of RFC1‑ataxia (CANVAS) followed at centers in Italy. Participants will undergo standardized clinical rating scales for ataxia, balance, sensory ataxia and vestibular symptoms, along with baseline neurophysiology (EMG, nerve studies, evoked potentials) and vestibular testing. Blood samples will be collected to test markers of oxidative stress and other circulating biomarkers compared against controls. Patient‑derived cell models will be generated to study cellular mechanisms, with a focus on mitochondrial function.
Who should consider this trial
Good fit: Adults aged 18–79 with a confirmed biallelic RFC1 pathogenic repeat expansion and the ability to give informed consent are the intended participants.
Not a fit: People without the RFC1 mutation, those with other degenerative or non‑degenerative neurological diseases, or those outside the age range are unlikely to benefit from the results of this observational protocol.
Why it matters
Potential benefit: If successful, this work could provide blood biomarkers and more sensitive clinical measures to track RFC1‑ataxia progression and speed development of targeted treatments.
How similar studies have performed: While RFC1‑related CANVAS has been recently characterized and some natural history reports exist, biomarker and patient‑derived cellular mechanistic studies remain limited and this combined approach is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion Criteria: * Molecular diagnosis of RFC1-ataxia * age \>18 years and \<80 years * ability to sign informed consent Exclusion Criteria: * Diagnosis of other degenerative and/or non-degenerative neurological diseases * Not signed informed consent
Where this trial is running
Bologna and 1 other locations
- Alma Mater Studiorum University of Bologna — Bologna, Italy (ACTIVE_NOT_RECRUITING)
- Department of Neuroscience — Roma, Italy (RECRUITING)
Study contacts
- Principal investigator: Gabriella Silvestri — Catholic University of the Sacred Heart
- Study coordinator: Gabriella Silvestri
- Email: gabriella.silvestri@unicatt.it
- Phone: +390630154435
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: CANVAS Syndrome