Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data

Recruiting

• Conditions: Developmental and Epileptic Encephalopathy

• Registration Number: NCT06380192
• Lead Sponsor: Imagine Institute

Brief Summary

Developmental and Epileptic Encephalopathy (DEE) are a heterogeneous group of neurodevelopmental disorders linked to both epilepsy and its underlying etiology, independently of epileptiform activity.

The creation of a database with retrospective follow-up of a large number of patients on a national scale will enable better knowledge of specific biomarkers, and thus a better classification and understanding of the natural evolution of DEE according to their etiology. This will enable better, more personalized therapeutic management of patients, depending on etiology and the presence or absence of these biomarkers. The investigators will also be able to draw up management recommendations, which are currently non-existent.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2024-03-28
• Study First Submitted QC: 2024-04-18
• Study First Posted: 2024-04-23
• Study Start: 2024-12-01
• Status Verified: 2025-03
• Last Update Submitted: 2025-03-14
• Last Update Posted: 2025-03-19
• Primary Completion: 2026-12-31
• Study Completion: 2026-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 400

Inclusion Criteria

• Diagnosis of Developmental and Epileptic Encephalopathy
• Registered with or benefiting from a social security scheme.

Exclusion Criteria

• Opposition of the patient or his/her parents to the re-use of data in the context of this study
• Person subject to a safeguard of justice measure

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Identification of diagnostic biomarkers of a neurodevelopmental trajectory with epileptic and developmental encephalopathies	Data 2002-2026	Clinical, biological, radiological, genetic and electroencephalographic variables
Identification of early predictive biomarkers of a neurodevelopmental trajectory with epileptic and developmental encephalopathies	Data 2002-2026	Clinical, biological, radiological, genetic and electroencephalographic variables

Secondary Outcome Measures

Name	Time	Method
Assessment of patients' quality of life	Data 2002-2026	The SF-12 questionnaire is used to assess quality of life.
Identification of patient subgroups presenting the identified biomarkers	Data 2002-2026	To identify patient subgroups, correlation analyses will be carried out to highlight any common clinical, biological, genetic, radiological and electroencephalographic findings.
Assessment of autism spectrum disorders	Data 2002-2026	The Social Communication Questionnaire (SCQ) will be used to assess autism spectrum disorders.
Assessment of age-related adaptive behavior	Data 2002-2026	To assess the age of adaptive behavior, the Vineland II scale is the reference test.
Assessment of behavioral disorders	Data 2002-2026	The CBCL (Child Behaviour Checklist) questionnaire is the reference test for assessing behavioural problems.

Trial Locations

Locations (20)

CH Angers; 🇫🇷 Angers, France

Chu Besancon; 🇫🇷 Besançon, France

CHU Bordeaux; 🇫🇷 Bordeaux, France

CHRU Brest; 🇫🇷 Brest, France

CHU Clermont-Ferrand; 🇫🇷 Clermont-Ferrand, France

CHU Grenoble; 🇫🇷 Grenoble, France

CHU Lille; 🇫🇷 Lille, France

CHU Limoges; 🇫🇷 Limoges, France

CHU Lyon HCL; 🇫🇷 Lyon, France

Assistance Publique Hopitaux de Marseille; 🇫🇷 Marseille, France

CHU de Nancy; 🇫🇷 Nancy, France

Hopitaux Pediatriques de Nice CHU Lenval; 🇫🇷 Nice, France

Necker-Enfants Malades Hospital; 🇫🇷 Paris, France

CHU Pitié Salpétrière; 🇫🇷 Paris, France

CHU Robert Debré; 🇫🇷 Paris, France

Chu Reims; 🇫🇷 Reims, France

CHU Rennes; 🇫🇷 Rennes, France

CHU Strasbourg; 🇫🇷 Strasbourg, France

CHU Toulouse; 🇫🇷 Toulouse, France

CHRU Tours; 🇫🇷 Tours, France