Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: HD-EEG recordings, combined with cognitive and motor assessment.
- Who it may be relevant to
- Registry conditions: Friedreich's Ataxia, Motor Disorders. Basic parameters: 8 years — 60 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Structural-Functional Connectome and High Density Electroencephalogram: Pilot Study in Patients With Friedreich's Ataxia.
Overview
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.
Detailed 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.
Interventions
- Device 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 prog
Primary outcome measures
- Connectivity profile derived from HD-EEG in subjects with FRDA. [Time frame: From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up]
- Functional activity derived from HD-EEG in subjects with FRDA. [Time frame: From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up]
Secondary outcome measures (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). [Time frame: From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Basic science
Study locations
Italy · 1 center
- IRCCS Eugenio Medea / Associazione la Nostra Famiglia — Conegliano
Identifiers
NCT: NCT07095062 · 233-24 · ANV 2025-28