Developmental and Epileptic Encephalopathy of Genetic Etiology: Natural History Through Reuse of Clinical Data
NCT06380192 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 400
Last updated 2025-06-29
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
Sponsors & Collaborators
-
Imagine Institute
lead OTHER
Eligibility
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2024-10-31
- Primary Completion
- 2026-12-31
- Completion
- 2026-12-31
Countries
- France
Study Locations
More Related Trials
-
Identification of the Molecular and/or Pathophysiological Bases of Rare Diseases of Genetic Origin (or Rare Forms of Frequent Diseases Suspected of Being of Genetic Origin).
NCT03287193 ·Status: RECRUITING
-
Better Delineation of DDX3X Related Phenotype and Epigenetic Signature.
NCT04436588 ·Status: UNKNOWN
-
Search for Phenotype-modifying Genes in Patients With Intellectual Disabilities.
NCT06706934 ·Status: NOT_YET_RECRUITING
-
Molecular Diagnosis of Syndromic or Isolated Severe Intellectual Disability Using Whole Exome Sequencing : a Pilot Study
NCT02862808 ·Status: COMPLETED
-
Transcriptomic Approach for the Identification and Prioritization of Genome Variants in Neurodevelopmental Disorders With Malformation
NCT06762678 ·Status: NOT_YET_RECRUITING ·Phase: NA
-
Prospective Cohort Study of Neurogenetic Diseases
NCT06048523 ·Status: RECRUITING ·Phase: NA
-
Inter-regional Project of the Great Western Exploration Approach for Exome Molecular Causes Severe Intellectual Disability Isolated or Syndromic
NCT02136849 ·Status: COMPLETED
-
Omic Approaches to Neurodevelopmental Disabilities
NCT06337396 ·Status: COMPLETED ·Phase: NA
-
Natural History Study - Mitochondrial Disease
NCT01532791 ·Status: RECRUITING
-
Genetic Investigations in Children With Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam
NCT05722990 ·Status: RECRUITING
-
Natural History Study of GEMIN-5 Related Neurodevelopmental Disorder
NCT06776341 ·Status: RECRUITING
-
Clinical and Genetic Evaluation of Individuals With Undiagnosed Disorders Through the Undiagnosed Diseases Network
NCT02450851 ·Status: RECRUITING
-
Medico-economic Evaluation of Different High-throughput Sequencing Strategies in the Diagnosis of Patients With Intellectual Deficiency
NCT03287206 ·Status: COMPLETED
-
Natural History, Genetic Bases and Phenotype-genotype Correlations in Autosomal Dominant Spinocerebellar Degenerations
NCT00136630 ·Status: COMPLETED
-
Use of Long Read Genome Sequencing in Patients Suffering From Neurodevelopmental Troubles
NCT05643274 ·Status: COMPLETED
-
Longitudinal Study of Neurogenetic Disorders
NCT03492060 ·Status: RECRUITING
-
Neonatal Seizure Registry, GEnetics of Post-Neonatal Epilepsy
NCT05361070 ·Status: ACTIVE_NOT_RECRUITING
-
Nature and Frequency of Genetic Abnormalities and Associated Phenotypes in a Cohort of Adults With Intellectual Disability
NCT06630195 ·Status: NOT_YET_RECRUITING
-
Risk of Recurrence of de Novo Mutations: Research and Quantification of Paternal Germinal Mosaicism by the Combined Use of Genomic Tools
NCT04564235 ·Status: COMPLETED ·Phase: NA
-
Genetics of Recurrent Early Onset Major Depression
NCT00260182 ·Status: COMPLETED
-
Combining Exome and Transcriptome Data to Unravel the Genetic Basis of the Lissencephalies
NCT05185414 ·Status: UNKNOWN ·Phase: NA
-
Human Epilepsy Genetics--Neuronal Migration Disorders Study
NCT00041600 ·Status: RECRUITING
-
GNAO1 Natural History Study
NCT04950946 ·Status: UNKNOWN
-
Genetics of Mendelian Forms of Young Onset Alzheimer Disease
NCT01622894 ·Status: COMPLETED ·Phase: NA
-
Identifying New Genetic Causes to Development Disorders
NCT03283852 ·Status: RECRUITING