High-density EEG mapping of brain connectivity in Friedreich's ataxia
Structural-Functional Connectome and High Density Electroencephalogram: Pilot Study in Patients With Friedreich's Ataxia.
This pilot will test whether high-density EEG can detect brain connectivity patterns linked to motor and cognitive symptoms in people aged 8–60 with genetically confirmed Friedreich's ataxia.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 30 (estimated) |
| Ages | 8 Years to 60 Years |
| Sex | All |
| Sponsor | IRCCS Eugenio Medea Academic / other |
| Locations | 1 site (Conegliano, Treviso) |
| Trial ID | NCT07095062 on ClinicalTrials.gov |
What this trial studies
This prospective, exploratory multicenter pilot will use high-density electroencephalography (HD-EEG) to map resting-state and task-based brain connectivity in 30 people with genetically confirmed Friedreich's ataxia and SARA <30. Participants will undergo HD-EEG recordings at rest and during an upper-limb motor task alongside comprehensive neuropsychological testing and clinical scales (SARA, mFARS). The study will correlate connectivity metrics with cognitive profiles and clinical severity and explore relationships with rehabilitation-related changes. The approach aims to identify neurophysiological biomarkers of cerebello-cortical network dysfunction in FRDA.
Who should consider this trial
Good fit: Ideal candidates are people aged 8–60 with a genetic diagnosis of FRDA, a SARA score under 30, and the ability to complete neuropsychological testing in Italian.
Not a fit: Patients with non-FRDA ataxias, a SARA score of 30 or higher, or who cannot complete Italian-language cognitive testing are unlikely to benefit from this protocol.
Why it matters
Potential benefit: If successful, the study could yield EEG-based biomarkers to help track disease progression or response to rehabilitation in FRDA patients.
How similar studies have performed: Prior EEG and connectivity studies in cerebellar and ataxic disorders have shown altered network patterns, but HD-EEG connectome mapping specifically in Friedreich's ataxia is largely novel and unproven.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion criteria: * age between 8 and 60 years; * genetic diagnosis of FRDA: presence of guanine-adenine trinucleotide (GAA) expansion in the two alleles of the fratassin gene, GAA1 and GAA2; * score on the Scale for the Assessment and Rating of Ataxia (SARA) \< 30; * ability to take part in a neuropsychological assessment in Italian. Exclusion criteria: * age different from the range 8-60 years; * diagnosis of acquired ataxia or other genetic ataxias; * SARA scale score ≥ 30; * inability to take part in an Italian-language neuropsychological assessment
Where this trial is running
Conegliano, Treviso
- IRCCS Eugenio Medea / Associazione la Nostra Famiglia — Conegliano, Treviso, Italy (Recruiting)
Study contacts
- Principal investigator: Gabriella Paparella, Medical Doctor — IRCCS E. Medea / Associazione la Nostra Famiglia
- Study coordinator: Gabriella Paparella, Medical Degree
- Email: gabriella.paparella@lanostrafamiglia.it
- Phone: +39 04389062
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.