An observational study in Developmental and Epileptic Encephalopathies (DEE), sponsored by Istituto Giannina Gaslini. Recruiting at 14 sites in 8 countries. Open to participants aged 0 Years to 55 Years. Per ClinicalTrials.gov, last updated 2026-11-02.
Sponsored by Istituto Giannina Gaslini · Observational
Developmental and Epileptic Encephalopathies (DEEs) with a genetic cause represent a complex group of neurodevelopmental disorders characterized by intellectual disability and drug-resistant epilepsy. Because targeted, disease-modifying precision therapies like gene replacement and antisense oligonucleotides are rapidly approaching clinical trials, establishing objective diagnostic, prognostic, and therapeutic biomarkers is an urgent priority. Promoted by the IRCCS Istituto Giannina Gaslini and coordinated by Prof. Pasquale Striano, the MOBi-DEE protocol aims to identify and integrate multi-omic biomarkers using routine clinical investigations.
The study is designed as a multicenter, international, observational, cross-sectional, case-control, non-interventistico, and non-profit project targeting an enrollment of approximately 200 participants up to 55 years of age, including patients with genetically confirmed DEE and control subjects.
The methodology relies on biological samples and instrumental tests already collected during standard clinical follow-ups, avoiding any additional invasive procedures purely for research. Blood, urine, and stool samples are collected for metabolomic profiling, extracellular vesicle analysis, and gut microbiota metagenomics. Cerebrospinal fluid is analyzed exclusively if obtained as excess residual material from necessary diagnostic or therapeutic lumbar punctures or ventricular drains. Additionally, resting-state electroencephalogram recordings are evaluated via quantitative analysis to profile brain electrical dynamics, while electronic clinical report forms capture demographic data, genetic diagnoses, seizure characteristics, neurological status, and gastrointestinal symptoms via standardized questionnaires like Rome IV.
This research is vital for patients, families, and healthcare providers because it helps overcome the barrier of rare, heterogeneous patient populations through biomarker discovery, ultimately aiding the design of robust clinical trials for breakthrough therapies. By depending primarily on routine clinical samples and non-invasive collection methods, the study minimizes any added physical burden or risk for patients and families. Furthermore, strict data protection protocols govern privacy, while multi-centre material transfer agreements and future peer-reviewed publications aim to accelerate international research and therapeutic development.
Istituto Giannina Gaslini is the lead sponsor of 54 studies on the registry; 36 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with DEEs from several epilepsy sites
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Diagnosis of Developmental and Epileptic Encephalopathy with proven genetic etiology report;
from a parent/legal representative in case of inability to provide consent due to severe cognitive disability, and where required by age, informed assent.
For controls:
Presence of informed consent from the participant and/or their legal guardian, and where required by age, informed assent.
Exclusion Criteria:
Lack of / assent.
Diagnosis other than Developmental and Epileptic Encephalopathy with genetic etiology;
Absence of genetic test report;
Severe conditions requiring pharmacological polytherapy, in addition to antiseizure medications (e.g., kidney disease, heart disease, diabetes, oncological disease, etc.);
Concomitant use, or use up to 1 month prior to sampling, of antibiotic medications.
For controls:
Lack of informed consent / assent.
Severe conditions requiring pharmacological polytherapy (e.g., kidney disease, heart disease, diabetes, oncological disease, etc.);
Concomitant use, or use up to 3 months prior to sampling, of medications acting on the central nervous system;
Concomitant use, or use up to 1 month prior to sampling, of antibiotic medications.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Patients with epileptic and developmental encephalopathy
Healthy controls
Neurophysiological profiling of DEE patients.
Time frame: Once, at visit 1 only
Metabolomic profiling of DEE patients compared to controls across different biofluids (plasma, urine, stool, cerebrospinal fluid)
Enriched metabolites and pathways in DEE patients compared to controls; Depleted metabolites and pathways in DEE patients compared to controls.
Time frame: Once, at visit 1 only
Gut microbiota profiling of DEE patients compared to controls
Differences between DEE patients and controls for the following gut microbiota variables: taxonomic groups, alpha diversity, and beta diversity.
Time frame: Once, at visit 1 only
Profiling of extracellular vesicles identified in the analyzed biofluids of participants
Relative abundance of extracellular vesicles extractable from plasma, urine, and cerebrospinal fluid. Characterization of extracellular vesicles extracted from plasma, urine, and cerebrospinal fluid.
Time frame: Once, at visit 1 only
Plan to share: Undecided
No publications or documents are linked to this record.
Ran from Jul 2024 to primary completion in Dec 2025, 16 months.
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Istituto Giannina Gaslini