Structural-Functional Connectome and High Density Electroencephalogram: Pilot Study in Patients With Friedreich's Ataxia.
Status: Recruiting
Location: See location...
Intervention Type: Device
Study Type: Interventional
Study Phase: Not Applicable
SUMMARY
Prospective, exploratory, multicenter pilot study investigating the structural and functional connectome in patients with Friedreich's Ataxia (FRDA) using high-density electroencephalogram (HD-EEG). The aim is to identify neurophysiological biomarkers and analyze the relationship between cortical connectivity, cognitive functioning, and clinical severity, particularly in response to rehabilitation treatment.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 8
Maximum Age: 60
Healthy Volunteers: f
View:
• 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.
Locations
Other Locations
Italy
IRCCS Eugenio Medea / Associazione la Nostra Famiglia
RECRUITING
Conegliano
Contact Information
Primary
Gabriella Paparella, Medical Degree
gabriella.paparella@lanostrafamiglia.it
+39 04389062
Time Frame
Start Date: 2025-07-07
Estimated Completion Date: 2026-12-31
Participants
Target number of participants: 30
Treatments
Experimental: Patients with Friedreich's ataxia undergoing HD-EEG and neurofunctional rehabilitation.
This arm includes patients with a confirmed genetic diagnosis of Friedreich's Ataxia (FRDA), aged between 8 and 60 years, with SARA scale scores below 30. Participants undergo high-density electroencephalogram (HD-EEG) recording under resting conditions and during a motor task, as well as a comprehensive neuropsychological and emotional assessment. All follow an intensive rehabilitation program lasting 3-4 weeks. HD-EEG recordings are repeated after treatment and one year later to assess longitudinal changes in functional connectivity and identify potential biomarkers associated with clinical progression.
Related Therapeutic Areas
Sponsors
Leads: IRCCS Eugenio Medea