| NCT ID | NCT07909382 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Istituto Giannina Gaslini |
| Condition | Developmental and Epileptic Encephalopathies (DEE) |
| Study Type | OBSERVATIONAL |
| Enrollment | 200 participants |
| Start Date | 2024-07-04 |
| Primary Completion | 2025-12-01 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 200 participants in total. It began in 2024-07-04 with a primary completion date of 2025-12-01.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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.
Eligibility Criteria
Inclusion Criteria: * For patients: Diagnosis of Developmental and Epileptic Encephalopathy with proven genetic etiology report; Informed consent 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: * For patients: Lack of informed consent / 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.
Contact & Investigator
Frequently Asked Questions
Who can join the NCT07909382 clinical trial?
This trial is open to participants of all sexes, aged 0 Years or older, up to 55 Years, studying Developmental and Epileptic Encephalopathies (DEE). Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT07909382 currently recruiting?
Yes, NCT07909382 is actively recruiting participants. Contact the research team at pasqualestriano@gaslini.org for enrollment information.
Where is the NCT07909382 trial being conducted?
This trial is being conducted at Antwerp, Belgium, Dianalund, Denmark, Marseille, France, Heidelberg, Germany and 10 additional locations.
Who is sponsoring the NCT07909382 clinical trial?
NCT07909382 is sponsored by Istituto Giannina Gaslini. The trial plans to enroll 200 participants.