Clinical trial NCT06380192: Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
Official title: Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data / DEE-RETRO
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Developmental and Epileptic Encephalopathy
Lead sponsor: Imagine Institute
Sponsor class: OTHER
First posted: 2024-04-23
Enrollment: 400
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: CASE_CONTROL
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patient diagnosed with developmental encephalopathy and epilepsy.

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.


Eligibility criteria: 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

Primary outcomes:
measure: Identification of diagnostic biomarkers of a neurodevelopmental trajectory with epileptic and developmental encephalopathies
timeFrame: Data 2002-2026
measure: Identification of early predictive biomarkers of a neurodevelopmental trajectory with epileptic and developmental encephalopathies
timeFrame: Data 2002-2026
Secondary outcomes:
measure: Identification of patient subgroups presenting the identified biomarkers
timeFrame: Data 2002-2026
measure: Assessment of patients' quality of life
timeFrame: Data 2002-2026
measure: Assessment of age-related adaptive behavior
timeFrame: Data 2002-2026
measure: Assessment of behavioral disorders
timeFrame: Data 2002-2026
measure: Assessment of autism spectrum disorders
timeFrame: Data 2002-2026
Other outcomes:
Locations:
city: Angers
country: France
facility: CH Angers
city: Besançon
country: France
facility: Chu Besancon
city: Bordeaux
country: France
facility: CHU Bordeaux
city: Brest
country: France
facility: CHRU Brest
city: Clermont-Ferrand
country: France
facility: CHU Clermont-Ferrand
city: Grenoble
country: France
facility: CHU Grenoble
city: Lille
country: France
facility: CHU Lille
city: Limoges
country: France
facility: CHU Limoges
city: Lyon
country: France
facility: CHU Lyon HCL
city: Marseille
country: France
facility: Assistance Publique Hopitaux de Marseille
city: Nancy
country: France
facility: CHU de Nancy
city: Nice
country: France
facility: Hopitaux Pediatriques de Nice CHU Lenval
city: Paris
country: France
facility: Necker-Enfants Malades Hospital
city: Paris
country: France
facility: CHU Pitié Salpétrière
city: Paris
country: France
facility: CHU Robert Debré
city: Reims
country: France
facility: Chu Reims
city: Rennes
country: France
facility: CHU Rennes
city: Strasbourg
country: France
facility: CHU Strasbourg
city: Toulouse
country: France
facility: CHU Toulouse
city: Tours
country: France
facility: CHRU Tours
Study officials:
References: