Actively Recruiting
Structural-Functional Connectome and High Density Electroencephalogram Pilot Study in Patients With Friedreich's Ataxia
Led by IRCCS Eugenio Medea · Updated on 2025-07-31
30
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating Friedreich's Ataxia (FRDA), a progressive neurodegenerative disease caused by mutations in the FXN gene, which leads to reduced frataxin protein and impaired iron regulation. This condition affects motor and sensory functions, as well as cognitive and emotional abilities, due to cerebellar degeneration and changes in brain networks connecting the cerebellum and cortex. The study aims to identify neurophysiological biomarkers and explore how brain connectivity relates to cognitive function and clinical severity, especially in response to rehabilitation. Participants with genetically confirmed FRDA, aged 8 to 60 years and with a SARA score below 30, will undergo high-density electroencephalogram (HD-EEG) recordings both at rest and during an upper limb motor task. They will also complete detailed neuropsychological testing covering memory, attention, language, visuospatial skills, and other cognitive and emotional areas. Following initial assessments, participants will engage in a 3- to 4-week intensive rehabilitation program. HD-EEG recordings will be repeated after treatment and again one year later to track changes in brain connectivity and identify potential markers linked to disease progression. Throughout the study, participants will be assessed with neuropsychological scales and clinical motor scales (SARA and mFARS) alongside HD-EEG data collection. The primary measures focus on brain connectivity and functional activity changes from enrollment through treatment and the one-year follow-up. The study will evaluate correlations between brain activity patterns and cognitive and motor function over time, aiming to better understand disease mechanisms. Total study participation will include baseline assessments, rehabilitation, post-treatment evaluations, and long-term follow-up at one year.
CONDITIONS
Brief Title
Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age between 8 and 60 years
- Confirmed genetic diagnosis of Friedreich's Ataxia with GAA expansions in both alleles of the frataxin gene
- Score below 30 on the Scale for the Assessment and Rating of Ataxia (SARA)
- Ability to complete a neuropsychological assessment in Italian
You will not qualify if you...
- Age outside the 8 to 60 years range
- Diagnosis of acquired ataxia or other genetic ataxias
- Score 30 or higher on the SARA scale
- Inability to complete an Italian-language neuropsychological assessment
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - 3 to 4 weeks
Participants undergo high-density EEG (HD-EEG) recordings under resting conditions and during an upper limb motor task. They also complete a comprehensive neuropsychological assessment and participate in an intensive multidisciplinary rehabilitation program.
Multiple visits during rehabilitation program and EEG sessions
Duration - Up to 1 year
Participants return for follow-up HD-EEG recordings approximately one year after treatment to assess changes in brain functional connectivity over time.
1 follow-up visit (in-person)
Trial Site Locations
Total: 1 location
1
IRCCS Eugenio Medea / Associazione la Nostra Famiglia
Conegliano, Treviso, Italy, 31015
Actively Recruiting
Research Team
G
Gabriella Paparella, Medical Degree
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
BASIC_SCIENCE
Number of Arms
1
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