Searching for causes and blood biomarkers in RFC1‑ataxia (CANVAS)
Official title: Pathogenic Insights and Search for Biomarkers in RFC1-ataxia/CANVAS: a Model to a Deeper Understanding of Molecular Mechanisms Underlying Late-onset Neurodegeneration
Run by Catholic University of the Sacred Heart · NCT07156214 · Data updated 2026-11-12
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
| Study type | Interventional |
|---|---|
| Ages | 18 Years to 80 Years |
| Sex | All |
| Enrollment | 50 (estimated) |
| Sponsor | Catholic University of the Sacred Heart Academic / other |
| Locations | 2 sites (Bologna and 1 other locations) |
| Status | Recruiting |
| Started | October 14, 2024 |
| Main results expected | June 30, 2026 |
| Study ends | July 31, 2026 |
| Registry record updated | September 5, 2025 |
| Trial ID | NCT07156214 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a 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.
✕Probably 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.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
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.
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 gone: 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.
Who can join: the full rules
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 it's running
-
Department of Neuroscience
Roma, Italy Recruiting -
Alma Mater Studiorum University of Bologna
Bologna, Italy Active not 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 take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.