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

NCT06380192 | Recruiting

• 1 other identifier: HJ22-DEE-RETRO
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 23

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.

Conditions

Developmental and Epileptic Encephalopathy

Outcome Measures

Primary Outcomes (1)

• Identification of diagnostic and early predictive biomarkers of a neurodevelopmental trajectory with epileptic and developmental encephalopathies

  This composite outcome includes multiple diagnostic domains (Clinical, biological, radiological, genetic and electroencephalographic variables)

  Data 2002-2026

Secondary Outcomes (5)

• Identification of patient subgroups presenting the identified biomarkers

  Data 2002-2026

• Assessment of patients' quality of life

  Data 2002-2026

• Assessment of age-related adaptive behavior

  Data 2002-2026

• Assessment of behavioral disorders

  Data 2002-2026

• Assessment of autism spectrum disorders

  Data 2002-2026

Study Arms (2)

Patient

Patient inclusion criteria: * Diagnosis of developmental and epileptic encephalopathies * Affiliation with, or beneficiary of, a social security scheme Criteria for non-inclusion of patients: * Opposition of the patient or his/her parents in the case of minors to the re-use of data for this study. * Persons subject to a safeguard of justice measure

Control patient

Inclusion criteria for controls: * Patients who, as part of their routine health care, require an EEG examination * Patients with sufficient follow-up to rule out a diagnosis of epilepsy, including developmental and epileptic encephalopathies * Enrolled in or receiving social security benefits Criteria for non-inclusion of controls : * Patient with a neurological or extra-neurological disease that may have an impact on the child's neurological development and outcome * Opposition of the patient or his/her parents to the re-use of data for this study * Persons subject to a safeguard of justice measure

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patient diagnosed with developmental encephalopathy and epilepsy.

You may qualify if:

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

You may not qualify if:

• 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

Sponsors & Collaborators

• Imagine Institute: lead

Study Sites (23)

CHU Amiens

Amiens, France

NOT YET RECRUITING

CH Angers

Angers, France

NOT YET RECRUITING

Chu Besancon

Besançon, France

NOT YET RECRUITING

CHU Bordeaux

Bordeaux, France

NOT YET RECRUITING

CHRU Brest

Brest, France

NOT YET RECRUITING

CHU Clermont-Ferrand

Clermont-Ferrand, France

NOT YET RECRUITING

CHU Grenoble

Grenoble, France

NOT YET RECRUITING

CHU Lille

Lille, France

NOT YET RECRUITING

CHU Limoges

Limoges, France

NOT YET RECRUITING

CHU Lyon HCL

Lyon, France

NOT YET RECRUITING

Assistance Publique Hopitaux de Marseille

Marseille, France

NOT YET RECRUITING

CHU de Nancy

Nancy, France

NOT YET RECRUITING

Hopitaux Pediatriques de Nice CHU Lenval

Nice, France

NOT YET RECRUITING

Necker-Enfants Malades Hospital

Paris, 75015, France

RECRUITING

CHU Pitié Salpétrière

Paris, France

NOT YET RECRUITING

CHU Robert Debré

Paris, France

NOT YET RECRUITING

Hôpital Armand Trousseau

Paris, France

NOT YET RECRUITING

Chu Reims

Reims, France

NOT YET RECRUITING

CHU Rennes

Rennes, France

NOT YET RECRUITING

CHU Strasbourg

Strasbourg, France

NOT YET RECRUITING

CHU Toulouse

Toulouse, France

NOT YET RECRUITING

CHRU Tours

Tours, France

NOT YET RECRUITING

Hôpital André Mignot (CH Versailles)

Versailles, France

NOT YET RECRUITING

Central Study Contacts

Rima Nabbout, Pr

CONTACT

+33144381536; rima.nabbout@aphp.fr

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 28, 2024
• First Posted: April 23, 2024
• Study Start: October 31, 2024
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2026
• Last Updated: June 29, 2025

Record last verified: 2025-06

Locations

FR (23)