Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.
Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age8-60
SponsorIRCCS Eugenio Medea
About this trial
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 criteria
This trial does not accept healthy volunteersQualifiers
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.
Disqualifiers
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
Trial design
Design model
Single group
Treatments tested in this trial
HD-EEG recordings, combined with cognitive and motor assessment
DeviceParticipants will undergo high-density EEG (HD-EEG) recordings under two conditions: at rest and while performing an upper limb motor task. The data obtained will be used to reconstruct source cortical activity and derive patterns of functional connectivity, using advanced neurophysiological analysis techniques, including the Avalanche Transition Matrix (ATM). In addition, patients will complete a neuropsychological assessment and participate in an intensive multidisciplinary rehabilitation program lasting 3 to 4 weeks, depending on age. The intervention aims to assess changes in the functional organization of the brain before and after treatment, as well as one year later, in order to explore potential biomarkers of disease progression.
Treatment groups
30 Participants
are divided into 1 treatment groupGroup A: Patients with Friedreich's ataxia undergoing HD-EEG and neurofunctional rehabilitation.Experimental treatment 1 intervention
Trial outcomes
Primary outcomes
1
Connectivity profile derived from HD-EEG in subjects with FRDA.
Characterization of alterations in the connectome derived from the HD-EEG of subjects with FRDA compared with matched controls;
Time frame
From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up2
Functional activity derived from HD-EEG in subjects with FRDA.
Evaluation of functional connectivity as a biomarker in the evolution of FRDA
Time frame
From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-upSecondary outcomes
1
Correlation between functional connectivity/activity and quantitative parameters derived from neuropsychological scales. Correlation between functional connectivity/activity and quantitative parameters derived from motor scales (SARA and mFARS).
1. acquisition of new knowledge about the neuronal basis of impaired neurocognitive functioning in FRDA; 2. evaluation of possible correlations with disease severity scales pre- and post-rehabilitation treatment.
Time frame
From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-upSponsors and contacts
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Source ClinicalTrials.gov