Friedreich's AtaxiaCONNETTOMANCT07095062
Electroencephalogram in Patients With Friedreich's Ataxia for the Study of the Structural and Functional Connectome.
A study testing HD-EEG recordings, combined with cognitive and motor assessment in people with Friedreich's Ataxia and Motor Disorders, run by IRCCS Eugenio Medea at 1 site in Italy.
Trial 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). Read more about this study
- Who is it for?
- Ages 8 to 60 years
- Conditions the study is for
- Friedreich's Ataxia, Motor Disorders
- What is being tested?
- HD-EEG recordings, combined with cognitive and motor assessment
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 30 participants
- Where
- 1 siteItaly
- Study dates
- 7 Jul 2025to 31 Dec 2027
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 8 to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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.
Who cannot join
- 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 locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Italy1 site, 1 recruiting
- Recruiting
IRCCS Eugenio Medea / Associazione la Nostra Famiglia
Conegliano, Treviso, 31015
Isabella Orlando, PhD, +39 04389062, isabella.orlando@lanostrafamiglia.it
Leonardo Boccuni, PhD, +39 04389062, leonardo.boccuni@lanostrafamiglia.it
About this study
Official title: Structural-Functional Connectome and High Density Electroencephalogram: Pilot Study in Patients With Friedreich's Ataxia.
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.
Read the 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.
- Conditions
- Friedreich's Ataxia, Motor Disorders
- Being tested
- HD-EEG recordings, combined with cognitive and motor assessment
- Keywords
- Functional Connectivity, HD-EEG, FRDA, Connectome, Cognitive Functioning, Neurodegenerative Disease, Cerebellar Disorders, Neurophysiological Biomarkers, Friedreich Ataxia
- Medical subject headings
- Friedreich Ataxia, Motor Disorders, Neurodegenerative Diseases, Cerebellar Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
HD-EEG recordings, combined with cognitive and motor assessmentDevice
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 group | Role | What they receive |
|---|---|---|
| Patients with Friedreich's ataxia undergoing HD-EEG and neurofunctional rehabilitation. | Experimental | 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. Receives: Device: HD-EEG recordings, combined with cognitive and motor assessment |
What is being measured
The primary outcome is the main question the study is designed to answer.
Connectivity profile derived from HD-EEG in subjects with FRDA.
Characterization of alterations in the connectome derived from the HD-EEG of subjects with FRDA compared with matched controls;
Measured: 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.
Evaluation of functional connectivity as a biomarker in the evolution of FRDA
Measured: From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up
Secondary outcomes (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).
- acquisition of new knowledge about the neuronal basis of impaired neurocognitive functioning in FRDA;
- evaluation of possible correlations with disease severity scales pre- and post-rehabilitation treatment.
Measured: From enrollment to the end of treatment at 3 to 4 weeks and after 1 year of follow-up
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Jul 2025
- Study start7 Jul 2025
- Primary completion31 Dec 2027 (estimated)
- Study completion31 Dec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Friedreich's AtaxiaStudies of the same condition, open and under way.
- More trials run by IRCCS Eugenio MedeaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 30 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Eugenio Medea
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Gabriella Paparella, Medical Doctor, Principal investigator, IRCCS E. Medea / Associazione la Nostra Famiglia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07095062
- Sponsor's protocol ID
- 233-24
- Other IDs
- ANV 2025-28
- Acronym
- CONNETTOMA
- Status last verified
- Nov 2026
- First submitted
- 2 Jul 2025
- Last updated
- 5 Nov 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: Anonymized individual participant data will be shared with other researchers upon reasonable request
Study at a glance
From the registry record, last updated by the sponsor on 5 Nov 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Structural-Functional Connectome and High Density Electroencephalogram: Pilot Study in Patients With Friedreich's Ataxia.
- ClinicalTrials.gov ID
- NCT07095062
- Acronym / sponsor ID
- CONNETTOMA / 233-24
- Conditions
- Friedreich's Ataxia, Motor Disorders
- Keywords
- Functional Connectivity, HD-EEG, FRDA, Connectome, Cognitive Functioning, Neurodegenerative Disease, Cerebellar Disorders, Neurophysiological Biomarkers
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 30 participants (estimated)
- Lead sponsor
- IRCCS Eugenio MedeaUniversity, hospital or other
- Study start
- 7 Jul 2025 (actual)
- Primary completion
- 31 Dec 2027 (estimated)
- Study completion
- 31 Dec 2027 (estimated)
- First posted
- 31 Jul 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Friedreich's ataxia undergoing HD-EEG and neurofunctional rehabilitation. | Experimental | Device: HD-EEG recordings, combined with cognitive and motor assessmentThis 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. |
Who may qualify
- Ages
- 8 to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (4 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| HD-EEG recordings, combined with cognitive and motor assessmentParticipants 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. | Device | Patients with Friedreich's ataxia undergoing HD-EEG and neurofunctional rehabilitation. |
Primary outcome
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
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.
Time frame: 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
1 secondary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Nov 2026.
- Individual participant dataSharing planned: Yes. Anonymized individual participant data will be shared with other researchers upon reasonable request
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Gabriella Paparella, Medical Doctor principal investigator
IRCCS E. Medea / Associazione la Nostra Famiglia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing HD-EEG recordings, combined with cognitive and motor assessment in people with Friedreich's Ataxia and Motor Disorders, run by IRCCS Eugenio Medea at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 5 Nov 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Gabriella Paparella, Medical Degree (+39 04389062, gabriella.paparella@lanostrafamiglia.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Nov 2026.