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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

30 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-07-07

Study Completion Date

2026-12-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

Patient Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS)

NCT02069509

Friedreich's Ataxia

COMPLETED

Probing Neural Circuitry for the Control of Movement

NCT02150642

Neurological Movement Disorders

COMPLETED

Movement-Related Brain Networks Involved in Hand Dystonia

NCT00137384

Movement Disorder Focal Dystonia

COMPLETED

Integrated Treatment in FND (Functional Neurological Disorders)

NCT04310670

Functional Neurological Disorder

RECRUITING NA

Dual Tasking in Children With Cerebral Palsy and Healthy Children: an EEG Study

NCT04634292

Child Development

UNKNOWN

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Friedreich's Ataxia Motor Disorders

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

BASIC_SCIENCE

Blinding Strategy

NONE

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

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.

Group Type EXPERIMENTAL

HD-EEG recordings, combined with cognitive and motor assessment

Intervention Type DEVICE

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.

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

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.

Intervention Type DEVICE

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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

Minimum Eligible Age

8 Years

Maximum Eligible Age

60 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No