Multi-biomarkers in DEE: a big look at genetic epilepsies

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The MOBi-DEE study is a multicenter, international observational project that collects biological samples from individuals with genetically confirmed DEE and control subjects. It uses cross-sectional, case-control design to identify diagnostic and prognostic biomarkers from routine clinical investigations. The goal is to integrate multi-omic data to better understand DEE biology and support future targeted therapies, in a non-interventional, non-profit framework. Enrollment is planned for up to 200 participants up to age 55 across several European centers. No interventions are performed as part of the study; the emphasis is on biomarker discovery through analysis of existing clinical data and samples.

Why it matters

Who can join: the full rules

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.

Where it's running

• Division of Neurology, University Hospital Antwerp
  Antwerp, Belgium Recruiting
• Danish Epilepsy Centre
  Dianalund, Denmark Recruiting
• Pediatric neurology unit, Assistance publique hôpitaux de Marseille and Aix-Marseille University, Timone University Hospital
  Marseille, France Recruiting
• Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine University Hospital Heidelberg
  Heidelberg, Germany Recruiting
• Pediatric Neurology Department, Edmond and Lily Safra Children's Hospital
  Ramat Aviv, Israel Recruiting
• IRCCS Istituto delle Scienze Neurologiche di Bologna
  Bologna, Italy Recruiting

Study contacts

• Study coordinator: Pasquale Striano, MD, PHD
• Email: pasqualestriano@gaslini.org
• Phone: +3901056362758

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• SLC6A1-NDD: A Longitudinal Look at How the Disorder Progresses

  This study follows children and young people with SLC6A1-NDD over two years to see how the condition changes over time and to test which assessments work for future research.

  Recruiting at 3 sites UCB Pharma · New York, New York and 2 other locations · NCT07531511

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.