ClinicalTrials.gov record NCT06353620
Structural-functional Connectome in Drug-resistant Epilepsies and Neurodevelopmental Syndromes With Epilepsy
Structural-functional Connectome With High-density Electroencephalography in Drug-resistant Epilepsies and Rare Neurodevelopmental Syndromes With Epilepsy
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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 retrospective study collects and analyzes existing high-density EEG recordings, structural MRI, and available neuropsychological tests from people with epilepsy and from those with Angelman or Dup15q syndromes. It applies network and signal analyses to compare brain organization before and after treatment in epilepsy and to characterize structure-function relationships in the syndromes. Where available, EEG features will be compared with memory test results.
What it is studying. The study tests whether features of resting high-density EEG and structural MRI—including functional connectivity in theta/alpha bands, aperiodic signal measures (neuronal avalanches, detrended fluctuation analysis), and their relation to structural connections—are related to clinical course, seizure outcomes, and cognitive/behavioral measures (for example memory). It also seeks EEG/MRI markers that characterize Angelman and Dup15q syndromes.
What the researchers hope to learn. Scientific goals: to characterize how brain network organization changes after pharmacological and/or surgical treatment in epilepsy; to relate functional networks to cognitive and behavioral functioning over time; to apply noninvasive HD-EEG and MRI methods to better describe the neurocognitive profiles of Angelman and Dup15q syndromes; and to identify syndrome-specific biomarkers useful for monitoring clinical development.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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)
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Diagnostic test
- High Density EEG recording
- Rey Complex Figure Test
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
Inclusion criteria
- 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.
Exclusion criteria
- 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.
Study description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Show the detailed description from the registry
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.
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.
The study uses noninvasive clinical data: participants will have resting-state high-density EEG recordings (128 channels). Researchers will also use brain MRI scans and, for some groups, a neuropsychological memory test (Rey Complex Figure Test) to compare brain network organization and memory performance, including before-and-after treatment records when available. Procedures listed in the record are noninvasive; no invasive procedures (for example, lumbar puncture or biopsies) are mentioned. The study is based on collecting and analyzing these EEG, MRI, and neuropsychological data rather than testing a treatment.
How the study is structured. This is a retrospective observational cohort study that organizes and re-analyzes clinical HD-EEG recordings (128 channels), structural MRI scans (including 3D T1), and neuropsychological data. Participants are analyzed in groups (focal/generalized epilepsy, Angelman syndrome, Dup15q syndrome, and control group). Analyses include pre- and post-treatment comparisons in epilepsy and group comparisons to identify structure-function relationships and potential biomarkers.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- 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 Angelman syndrome
Important dates
- Study start
- Feb 13, 2024
- Primary completion
- Mar 18, 2024
- Study completion
- Feb 28, 2027 (estimated)
- Target enrollment
- 120 participants (estimated)
- Last updated on registry
- Apr 9, 2024
- 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.
- Gian Marco Duma, PhD 📞 +39 0438414248 ✉ gianmarco.duma@lanostrafamiglia.it
- Darling Boachie 📞 +39 0438 41242 ✉ segreteriascientifica.medea.veneto@lanostrafamiglia.it
Participating sites (1)
- IRCCS E.MedeaRecruiting
Conegliano, Treviso, 31015 · Italy
- Duma Gian Marco, PhD · +39 0438414248 · gianmarco.duma@lanostrafamiglia.it
Terms used on this page · explanations by MedicalUpdates.ai
- MRI
- A scan that uses magnets and radio waves, not X-rays, to make detailed pictures of the inside of the body. Some implants and metal objects mean a person cannot have one.
- 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.
- 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.
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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