EpilepsyNCT06353620
Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy
An observational study of Epilepsy and Angelman Syndrome, run by IRCCS Eugenio Medea at 1 site in Italy.
Trial summary
Recent studies have shown that the aperiodic part of the signal (neuronal avalanches) of electroencephalography (EEG) contains important information about the dynamics of neuronal networks. Read more about this study
- Who is it for?
- Ages 6 to 75 years
- Conditions the study is for
- Epilepsy, Angelman Syndrome, Dup15q Syndrome
- What is being tested?
- High Density EEG recording and Rey Complex Figure Test
- How many people
- 120 participants
- Where
- 1 siteItaly
- Study dates
- 13 Feb 2024to 28 Feb 2027
- Phase
- Observational
- 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 6 to 75 years
- All sexes
- Child, Adult, Older adult
Study population: Patients with a diagnosis of focal or generalized epilepsy, Angelman syndrome, or Dup15q
Who may be able to join
- a diagnosis of focal or generalized epilepsy, Angelman syndrome, or Dup15q, confirmed by specialist evaluation;
- at least one MRI scan of the brain that includes 3D T1 sequences;
- at least one 128-channel HD-EEG recording; and
- age between 6 and 75 years at the time of the evaluation of the present study;
- ability to take part in a neuropsychological evaluation.
Who cannot join
- vascular causes or non-low-grade tumors as causes of epilepsy;
- age different from the range 6-75 years;
- neuroradiological examination not complete (absence T1 3D);
- absence of HD-EEG 128-channel recording
- inability to take part in a neuropsychological evaluation.
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 E.Medea
Conegliano, Treviso, 31015
Duma Gian Marco, PhD, +39 0438414248, gianmarco.duma@lanostrafamiglia.it
About this study
Official title: Structural-functional Connectome With High-density Electroencephalography in Drug-resistant Epilepsies and Rare Neurodevelopmental Syndromes With Epilepsy
Recent studies have shown that the aperiodic part of the signal (neuronal avalanches) of electroencephalography (EEG) contains important information about the dynamics of neuronal networks. Indeed, this has helped to identify functionally altered areas in patients with temporal epilepsy by simply using the resting EEG signal. Furthermore, it has been seen that the propagation of neuronal avalanches (VNs) correlates with the morphological organization of the cerebral cortex. Therefore, NAs represent a measure with direct utility for studying functional reorganization pre and post drug/surgical treatment. In addition, the aperiodic portion of the signal may represent a noninvasive measure of the excitation/inhibition relationship, which is known of being altered both in epilepsy and in some rare neurodevelopmental syndromes (example: Angelman and Dup15q)
Read the detailed description
Electroencephalography is the tool of choice for the diagnosis of epilepsy. Its use is increasing in the clinic, especially in its high-density form (HD-EEG), because it can be used as a neuroimaging tool, supporting the process of identifying the epileptogenic network (NE) and monitoring the evolution of brain connectivity over time in relation to the epileptic process.In particular, the reorganization of the functional connectome following pharmacological and/or surgical treatment of epilepsy is an aspect that is still little studied, but it could represent a useful prognostic factor that can improve the clinical management of the affected person. In addition, high-density EEG can be applied for the purpose of characterizing functional brain connectivity in some rare neurodevelopmental diseases, particularly Angelman syndrome and Dup15q syndrome, pathological increasingly being studied as a model of neurodevelopmental, cognitive and behavioral alterations in addition to epilepsy. Relatively to recent developments of potentially "disease modifying" therapies for these pathologies, there is indeed a need for markers of brain functioning useful to objectively monitor clinical development.
The present study involves the systematization of data from noninvasive clinical-instrumental assessments such as EEG and structural MRI, acquired during the diagnosis process in drug-resistant epilepsies and rare neurodevelopmental syndromes associated with epilepsy, in order to analyze the relationship between functional-structural organization of the brain system and clinical aspects, including cognitive and behavioral functioning. In the context of epilepsy, a data collection will be carried out to which recent analytical approaches related to the study of the functional connectome will be applied, with the aim of characterizing the reorganization of brain networks over time, hypothesizing a process of progressive "normalization" of these in subjects who present, after the course of treatment (pharmacological and/or surgical), total freedom or a significant reduction of seizures. In parallel, the relationship between the organization of functional networks and cognitive/behavioral functioning pre- and post-treatment will be analyzed, in order to obtain a dynamic and longitudinal view of the patients' clinical evolution. With this in mind, it is important to understand that functional activity is intrinsically linked to brain structures, and in fact the project takes into account the anatomo-functional relationship of the connectome. This relationship is crucial in rare neurodevelopmental syndromes, such as Angelman syndrome and Dup15q, where the use of the structural-functional connectome is a relevant novel element for the purpose of characterizing a highly complex picture that disrupts the global development of the affected child/person. Indeed, the relationship between changes in functional relationships between brain areas and underlying physical connections, as well as the relationship between these and neurodevelopment, are still poorly understood. The second goal of the project is therefore to generalize the use of these patient-friendly methods, starting with data collected with noninvasive instrumentation, in order to improve the characterization of the neurocognitive profile, as well as a useful tool to identify syndrome-specific biomarkers to be used in monitoring clinical development.
- Conditions
- Epilepsy, Angelman Syndrome, Dup15q Syndrome
- Being tested
- High Density EEG recording, Rey Complex Figure Test
- Medical subject headings
- Epilepsy, Angelman Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
High Density EEG recordingDiagnostic test
Recording of resting state high density EEG (128 channels)
Rey Complex Figure TestDiagnostic test
Memeory functioning evaluation
| Study group | Role | What they receive |
|---|---|---|
| Epilepsy | EEG resting state recording, neuropsychological evaluation Receives: Diagnostic Test: High Density EEG recording; Diagnostic Test: Rey Complex Figure Test | |
| Angelman Syndrome | EEG resting state recording, neuropsychological evaluation Receives: Diagnostic Test: High Density EEG recording; Diagnostic Test: Rey Complex Figure Test | |
| Dup15q Syndrome | EEG resting state recording, neuropsychological evaluation Receives: Diagnostic Test: High Density EEG recording | |
| Control Group | EEG resting staterecording Receives: Diagnostic Test: High Density EEG recording |
What is being measured
The primary outcome is the main question the study is designed to answer.
Differences in the network coherence values in theta and alpha band after treatment
The outcome 1 one will be finalized to measures the changes of the coherence values before and after the treatment. Coherence is a measure defining the strength of functional connectivity between two brain regions. The pre- and post-treatment changes will be investigated specifically in the theta and alpha EEG frequency band, since these two bands are the most affected in epilepsy condition.
Measured: 2 years
Stability of the alpha frequency band in the EEG activity
The detrend fluctuation analysis (DFA) in the alpha band of the EEG power spectrum provides information on excitatory and inihibitory balance of neural activity. For the outcome 2, the exponent of the DFA in the alpha band will be compared between patients with rare neurodevelopmental disorders (Angelman and Dup15q) vs. the healthy control group.
Measured: 2 years
Correlation of neural excitation and memory performance
Correlation between the aperiodic component of the EEG power specturum with the memory functioning obtained with the Rey Complex Figure Test, pre and post treatment
Measured: 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted9 Apr 2024
- Study start13 Feb 2024
- Primary completion18 Mar 2024
- Study completion28 Feb 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for EpilepsyStudies 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
- Observational
- Observational model
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 120 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Eugenio Medea
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Gian Marco Duma, Principal investigator, IRCCS E. Medea
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06353620
- Sponsor's protocol ID
- 1018
- Status last verified
- Apr 2024
- First submitted
- 20 Mar 2024
- Last updated
- 9 Apr 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 9 Apr 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Structural-functional Connectome With High-density Electroencephalography in Drug-resistant Epilepsies and Rare Neurodevelopmental Syndromes With Epilepsy
- ClinicalTrials.gov ID
- NCT06353620
- Acronym / sponsor ID
- 1018
- Conditions
- Epilepsy, Angelman Syndrome, Dup15q Syndrome
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 120 participants (estimated)
- Lead sponsor
- IRCCS Eugenio MedeaUniversity, hospital or other
- Study start
- 13 Feb 2024 (actual)
- Primary completion
- 18 Mar 2024 (actual)
- Study completion
- 28 Feb 2027 (estimated)
- First posted
- 9 Apr 2024 (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.
Recent studies have shown that the aperiodic part of the signal (neuronal avalanches) of electroencephalography (EEG) contains important information about the dynamics of neuronal networks. Indeed, this has helped to identify functionally altered areas in patients with temporal epilepsy by simply using the resting EEG signal. Furthermore, it has been seen that the propagation of neuronal avalanches (VNs) correlates with the morphological organization of the cerebral cortex. Therefore, NAs represent a measure with direct utility for studying functional reorganization pre and post drug/surgical treatment. In addition, the aperiodic portion of the signal may represent a noninvasive measure of the excitation/inhibition relationship, which is known of being altered both in epilepsy and in some rare neurodevelopmental syndromes (example: Angelman and Dup15q)
Detailed description
Electroencephalography is the tool of choice for the diagnosis of epilepsy. Its use is increasing in the clinic, especially in its high-density form (HD-EEG), because it can be used as a neuroimaging tool, supporting the process of identifying the epileptogenic network (NE) and monitoring the evolution of brain connectivity over time in relation to the epileptic process.In particular, the reorganization of the functional connectome following pharmacological and/or surgical treatment of epilepsy is an aspect that is still little studied, but it could represent a useful prognostic factor that can improve the clinical management of the affected person. In addition, high-density EEG can be applied for the purpose of characterizing functional brain connectivity in some rare neurodevelopmental diseases, particularly Angelman syndrome and Dup15q syndrome, pathological increasingly being studied as a model of neurodevelopmental, cognitive and behavioral alterations in addition to epilepsy. Relatively to recent developments of potentially "disease modifying" therapies for these pathologies, there is indeed a need for markers of brain functioning useful to objectively monitor clinical development.
The present study involves the systematization of data from noninvasive clinical-instrumental assessments such as EEG and structural MRI, acquired during the diagnosis process in drug-resistant epilepsies and rare neurodevelopmental syndromes associated with epilepsy, in order to analyze the relationship between functional-structural organization of the brain system and clinical aspects, including cognitive and behavioral functioning. In the context of epilepsy, a data collection will be carried out to which recent analytical approaches related to the study of the functional connectome will be applied, with the aim of characterizing the reorganization of brain networks over time, hypothesizing a process of progressive "normalization" of these in subjects who present, after the course of treatment (pharmacological and/or surgical), total freedom or a significant reduction of seizures. In parallel, the relationship between the organization of functional networks and cognitive/behavioral functioning pre- and post-treatment will be analyzed, in order to obtain a dynamic and longitudinal view of the patients' clinical evolution. With this in mind, it is important to understand that functional activity is intrinsically linked to brain structures, and in fact the project takes into account the anatomo-functional relationship of the connectome. This relationship is crucial in rare neurodevelopmental syndromes, such as Angelman syndrome and Dup15q, where the use of the structural-functional connectome is a relevant novel element for the purpose of characterizing a highly complex picture that disrupts the global development of the affected child/person. Indeed, the relationship between changes in functional relationships between brain areas and underlying physical connections, as well as the relationship between these and neurodevelopment, are still poorly understood. The second goal of the project is therefore to generalize the use of these patient-friendly methods, starting with data collected with noninvasive instrumentation, in order to improve the characterization of the neurocognitive profile, as well as a useful tool to identify syndrome-specific biomarkers to be used in monitoring clinical development.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Epilepsy | – | Diagnostic Test: High Density EEG recording, Diagnostic Test: Rey Complex Figure TestEEG resting state recording, neuropsychological evaluation |
| Angelman Syndrome | – | Diagnostic Test: High Density EEG recording, Diagnostic Test: Rey Complex Figure TestEEG resting state recording, neuropsychological evaluation |
| Dup15q Syndrome | – | Diagnostic Test: High Density EEG recordingEEG resting state recording, neuropsychological evaluation |
| Control Group | – | Diagnostic Test: High Density EEG recordingEEG resting staterecording |
Who may qualify
- Ages
- 6 to 75 years
- Sex
- All
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with a diagnosis of focal or generalized epilepsy, Angelman syndrome, or Dup15q
Key inclusion criteria (5 listed)
- a diagnosis of focal or generalized epilepsy, Angelman syndrome, or Dup15q, confirmed by specialist evaluation;
- at least one MRI scan of the brain that includes 3D T1 sequences;
- at least one 128-channel HD-EEG recording; and
- age between 6 and 75 years at the time of the evaluation of the present study;
- ability to take part in a neuropsychological evaluation.
Key exclusion criteria (5 listed)
- vascular causes or non-low-grade tumors as causes of epilepsy;
- age different from the range 6-75 years;
- neuroradiological examination not complete (absence T1 3D);
- absence of HD-EEG 128-channel recording
- inability to take part in a neuropsychological evaluation.
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 |
|---|---|---|
| High Density EEG recordingRecording of resting state high density EEG (128 channels) | Diagnostic test | Angelman Syndrome, Control Group, Dup15q Syndrome, Epilepsy |
| Rey Complex Figure TestMemeory functioning evaluation | Diagnostic test | Angelman Syndrome, Epilepsy |
Primary outcome
Differences in the network coherence values in theta and alpha band after treatment
Time frame: 2 years
The outcome 1 one will be finalized to measures the changes of the coherence values before and after the treatment. Coherence is a measure defining the strength of functional connectivity between two brain regions. The pre- and post-treatment changes will be investigated specifically in the theta and alpha EEG frequency band, since these two bands are the most affected in epilepsy condition.
Stability of the alpha frequency band in the EEG activity
Time frame: 2 years
The detrend fluctuation analysis (DFA) in the alpha band of the EEG power spectrum provides information on excitatory and inihibitory balance of neural activity. For the outcome 2, the exponent of the DFA in the alpha band will be compared between patients with rare neurodevelopmental disorders (Angelman and Dup15q) vs. the healthy control group.
Correlation of neural excitation and memory performance
Time frame: 2 years
Correlation between the aperiodic component of the EEG power specturum with the memory functioning obtained with the Rey Complex Figure Test, pre and post treatment
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 9 Apr 2024.
- Individual participant dataSharing planned: No
Related trials for Epilepsy
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Transforming Research and Clinical Knowledge in Traumatic Brain Injury Epileptogenesis Project (TRACK-TBI EPI)
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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.
Gian Marco Duma principal investigator
IRCCS E. Medea
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Epilepsy and Angelman Syndrome, 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 5 inclusion and 5 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 9 Apr 2024. 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 Gian Marco Duma, PhD (+39 0438414248, gianmarco.duma@lanostrafamiglia.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Differences in the network coherence values in theta and alpha band after treatment (time frame: 2 years). The study lists 3 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 9 Apr 2024.