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Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.

NCT07095062 · tracked via the Priya Life Science Italy tracker
Phase
Not applicable
Started
2025-07-07
Last updated
2025-07-31

Condition(s) studied

Friedreich's AtaxiaMotor Disorders

Investigational drug(s) / intervention(s)

HD-EEG recordings, combined with cognitive and motor assessment

HD-EEG recordings, combined with cognitive and motor assessment: Participants 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.

Study 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

Sex
ALL
Min age
8 Years
Max age
60 Years
Healthy volunteers
No
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

Primary outcome measure(s)

  • Connectivity profile derived from HD-EEG in subjects with FRDA. — From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up
    Characterization of alterations in the connectome derived from the HD-EEG of subjects with FRDA compared with matched controls;
  • Functional activity derived from HD-EEG in subjects with FRDA. — From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up
    Evaluation of functional connectivity as a biomarker in the evolution of FRDA

Trial sites (1)

FacilityCityRegionStatus
IRCCS Eugenio Medea / Associazione la Nostra Famiglia Conegliano Treviso Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07095062 on ClinicalTrials.gov ↗ ← All trials in Italy