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

IRCCS Eugenio Medea

Status: Enrolling

Conditions: Motor Disorders; Friedreich's Ataxia

Treatments: Device: HD-EEG recordings, combined with cognitive and motor assessment

Study type: Interventional

Funder types: Other

Identifiers

NCT07095062

233-24

ANV 2025-28 (Registry Identifier)

Details and patient eligibility

About

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.

Full description

Friedreich's Ataxia (FRDA) is a progressive neurodegenerative disease caused by mutations in the FXN gene, resulting in a reduction in the mitochondrial protein frataxin and a dysfunction in iron homeostasis. In addition to motor and sensory impairments, FRDA also results in cognitive and emotional deficits. Pathophysiologically, it is associated with cerebellar degeneration and alterations in cerebello-cortical networks.

The present study proposes a novel HD-EEG-based approach to analyze brain activity at resting-state and during the performance of a motor task (task-based) in subjects with FRDA. Thirty patients with confirmed genetic diagnosis, age between 8 and 60 years, and SARA score <30 will be recruited. EEG recordings will be performed in resting condition and during an upper limb motor task.

In addition to neurophysiological measures, each participant will undergo a comprehensive neuropsychological evaluation, including memory, attention, language, visuospatial skills, praxis, executive functions, emotional and personality aspects. Connectivity data will be correlated with cognitive profiles and scores on the SARA and mFARS clinical scales.

Enrollment: 30 estimated patients

Sex: All

Ages: 8 to 60 years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Basic Science

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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30 participants in 1 patient group

Patients with Friedreich's ataxia undergoing HD-EEG and neurofunctional rehabilitation.

Experimental group

Description:

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.

Treatment:

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