ClinicalTrials.gov record NCT07095062
Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.
Structural-Functional Connectome and High Density Electroencephalogram: Pilot Study in Patients With Friedreich's Ataxia.
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AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This pilot study uses high-density electroencephalogram (HD-EEG) and neuropsychological testing to study brain connectivity in people with genetically confirmed Friedreich's Ataxia. Participants complete resting and task-based HD-EEG, a broad cognitive and emotional assessment, and an intensive 3–4 week rehabilitation program; HD-EEG is repeated after treatment and again at one year. The study seeks neurophysiological biomarkers and to relate connectivity to cognitive performance and clinical measures.
What it is studying. The study tests whether HD-EEG can characterize structural and functional brain connectivity in Friedreich's Ataxia and how those connectivity patterns relate to thinking skills, clinical severity (SARA and mFARS), and changes after a short rehabilitation program.
What the researchers hope to learn. To identify neurophysiological biomarkers from HD-EEG, describe alterations in the connectome in FRDA, and evaluate correlations between functional connectivity, cognitive profiles, and clinical severity before and after rehabilitation.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Device
- HD-EEG recordings, combined with cognitive and motor assessment
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
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.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
Participants will have high-density EEG (HD-EEG) recordings at rest and while doing an upper-limb motor task. They will complete a comprehensive neuropsychological and emotional assessment. Participants will take part in an intensive multidisciplinary rehabilitation program lasting about 3–4 weeks (varies by age); HD-EEG recordings are repeated after the treatment and again one year later to assess changes. The registry describes EEG, neuropsychological testing, and rehabilitation as the study procedures.
How the study is structured. Interventional, single-group (no masking) pilot study. Participants receive HD-EEG recordings at rest and during an upper-limb motor task, complete comprehensive neuropsychological evaluations, and take part in an intensive multidisciplinary rehabilitation program lasting 3–4 weeks; HD-EEG is repeated at end of treatment and at one year to assess longitudinal changes.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- The listed sites are in Italy. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Friedreich ataxia
Important dates
- Study start
- Jul 7, 2025
- Primary completion
- Dec 31, 2026 (estimated)
- Study completion
- Dec 31, 2026 (estimated)
- Target enrollment
- 30 participants (estimated)
- Last updated on registry
- Jul 31, 2025
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- IRCCS Eugenio Medea
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Gabriella Paparella, Medical Degree 📞 +39 04389062 ✉ gabriella.paparella@lanostrafamiglia.it
Participating sites (1)
- IRCCS Eugenio Medea / Associazione la Nostra FamigliaRecruiting
Conegliano, Treviso, 31015 · Italy
- Isabella Orlando, PhD · +39 04389062 · isabella.orlando@lanostrafamiglia.it
- Leonardo Boccuni, PhD · +39 04389062 · leonardo.boccuni@lanostrafamiglia.it
Terms used on this page · explanations by MedicalUpdates.ai
- biomarkers
- Something measurable in the body, such as a blood test result or an imaging finding, that indicates how a condition or treatment is behaving.
- Inclusion criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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