Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data (DEE-RETRO)

Imagine Institute

Status: Enrolling

Conditions: Developmental and Epileptic Encephalopathy

Study type: Observational

Funder types: Other

Identifiers

NCT06380192

HJ22-DEE-RETRO

Details and patient eligibility

About

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.

Enrollment: 400 estimated patients

Sex: All

Ages: Under 17 years old

Volunteers: No Healthy Volunteers

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

Trial design

400 participants in 2 patient groups

Patient

Description:

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

Description:

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