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

June 25, 2025 updated by: Imagine Institute

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

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.

Study Overview

Status

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

400

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • France
      • Amiens, France
      • Angers, France
      • Besançon, France
        • Not yet recruiting
        • CHU Besançon
        • Principal Investigator:
          • Cécilia Altuzala, Dr
        • Contact:
      • Bordeaux, France
      • Brest, France
        • Not yet recruiting
        • CHRU Brest
        • Principal Investigator:
          • Jérémie Lefranc, Dr
        • Contact:
      • Clermont-Ferrand, France
      • Grenoble, France
        • Not yet recruiting
        • CHU Grenoble
        • Contact:
        • Principal Investigator:
          • Fanny Dubois, Dr
      • Lille, France
      • Limoges, France
      • Lyon, France
        • Not yet recruiting
        • CHU Lyon HCL
        • Principal Investigator:
          • Dorothee Ville, Dr
        • Contact:
      • Marseille, France
        • Not yet recruiting
        • Assistance Publique Hopitaux de Marseille
        • Contact:
        • Principal Investigator:
          • Mathieu Milh, Pr
      • Nancy, France
        • Not yet recruiting
        • CHU de Nancy
        • Principal Investigator:
          • Mathieu Kuchenbuch, Dr
        • Contact:
      • Nice, France
        • Not yet recruiting
        • Hôpitaux Pédiatriques de Nice CHU Lenval
        • Contact:
        • Principal Investigator:
          • Julien NEUVEU, Dr
      • Paris, France, 75015
        • Recruiting
        • Necker-Enfants Malades Hospital
        • Principal Investigator:
          • Rima Nabbout, Pr
        • Contact:
        • Sub-Investigator:
          • Anna Kaminska, Pr
        • Sub-Investigator:
          • Nathalie Boddaert, Pr
        • Sub-Investigator:
          • Nicole Chemaly Perin, Dr
      • Paris, France
        • Not yet recruiting
        • Hopital Armand Trousseau
        • Contact:
        • Principal Investigator:
          • Cyril MIGNOT, Dr
      • Paris, France
        • Not yet recruiting
        • CHU Robert Debré
        • Principal Investigator:
          • Stephane Auvin, Pr
        • Contact:
      • Paris, France
        • Not yet recruiting
        • CHU Pitie Salpetriere
        • Principal Investigator:
          • Vincent Navarro, Pr
        • Contact:
      • Reims, France
      • Rennes, France
      • Strasbourg, France
        • Not yet recruiting
        • CHU Strasbourg
        • Contact:
        • Principal Investigator:
          • Anne De Saint Martin, Dr
      • Toulouse, France
        • Not yet recruiting
        • Chu Toulouse
        • Principal Investigator:
          • Caroline HACHON-LE CAMUS, Dr
        • Contact:
      • Tours, France
        • Not yet recruiting
        • CHRU Tours
        • Principal Investigator:
          • Maximilien PERVIER, Dr
        • Contact:
      • Versailles, France
        • Not yet recruiting
        • Hôpital André Mignot (CH Versailles)
        • Contact:
        • Principal Investigator:
          • Samer WEHBI, Dr
        • Principal Investigator:
          • Geoffoy DELPLANCQ, Dr

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Patient diagnosed with developmental encephalopathy and epilepsy.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
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
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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identification of diagnostic and early predictive biomarkers of a neurodevelopmental trajectory with epileptic and developmental encephalopathies
Time Frame: Data 2002-2026
This composite outcome includes multiple diagnostic domains (Clinical, biological, radiological, genetic and electroencephalographic variables)
Data 2002-2026

Secondary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Imagine Institute

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 31, 2024

Primary Completion (Estimated)

December 31, 2026

Study Completion (Estimated)

December 31, 2026

Study Registration Dates

First Submitted

March 28, 2024

First Submitted That Met QC Criteria

April 18, 2024

First Posted (Actual)

April 23, 2024

Study Record Updates

Last Update Posted (Actual)

June 29, 2025

Last Update Submitted That Met QC Criteria

June 25, 2025

Last Verified

June 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • HJ22-DEE-RETRO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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