Looking for blood and body markers in developmental and epileptic encephalopathies
Studies samples and brain recordings from people with developmental and epileptic encephalopathies, and controls.
Plain-language title generated from the registry record
Registry title: Multi-biomarkers in DEE
Key facts
- Where
- Marseille, FranceSee the site
Could this be for you?
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 0 and 55 years old?
Source: NCT07909382, who can take part
Where in France
- Pediatric neurology unit, Assistance publique hôpitaux de Marseille and Aix-Marseille University, Timone University HospitalMarseille, FranceTaking people
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Trial details
- Who runs it
- Istituto Giannina Gaslini
- Trial code
- NCT07909382
- Record updated
- 2 November 2026
- Original description
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.Read full original descriptionShow less
Identification and Integration of Multi-omic Biomarkers for the Characterization of Patients With Developmental and Epileptic Encephalopathies (DEE) With a View to Clinical Trials / Identificazione e Integrazione di Multi-omici Biomarcatori Per la Caratterizzazione Dei Pazienti Con Encefalopatie Epilettiche e Dello Sviluppo (DEE) in Vista Dei Trials Clinici
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.
Inclusion: 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: 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.