Multi-biomarkers in DEE

Brief summary (registry, in English)

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.

What you commit to

• Study type: Observational
• Planned participants: 200
• From 4 Jul 2024 to the primary completion date, 1 Dec 2025
• 14 sites in 8 countries
• Visits and tests: ask the trial team, the registry does not list them

Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.

Who cannot take part

Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.

Who the study is looking for

Age in the registry: 0 years to 55 years · Sex: All · Does not accept healthy volunteers

Full criteria on ClinicalTrials.gov

Sites (14)

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