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NCT Number: NCT06380192

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

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.

Recruiting

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Key information

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Amiens, Amiens, France

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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)

Secondary outcomes

  1. 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.

  2. Assessment of patients' quality of life

    Time frame: Data 2002-2026

    The SF-12 questionnaire is used to assess quality of life.

  3. 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.

  4. Assessment of behavioral disorders

    Time frame: Data 2002-2026

    The CBCL (Child Behaviour Checklist) questionnaire is the reference test for assessing behavioural problems.

  5. Assessment of autism spectrum disorders

    Time frame: Data 2002-2026

    The Social Communication Questionnaire (SCQ) will be used to assess autism spectrum disorders.

Study contacts

Contact information is provided by the study sponsor or research team.

Rima Nabbout, Pr

CONTACT

[email protected]

+33144381536

Sponsors and collaborators

Lead sponsor

Imagine Institute

Other

Registry information

Official study title

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

Acronym: DEE-RETRO

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Apr 23, 2024
Registry last updated
Jun 29, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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