Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

200 participants

Study Classification

OBSERVATIONAL

Study Start Date

2021-03-06

Study Completion Date

2032-09-30

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

Electrical activity emerges in the third trimester of pregnancy, plays an important role in the construction of cortical maps, and is impaired in patients with severe early epileptic encephalopathies (EOEE). EOEE are rare and severe epileptic syndromes characterized by epilepsy that begins within the first three months of life and is associated with rapid deterioration of motor, cognitive and behavioral skills.

There is a genetic basis for the EOEE. Together with other laboratories, the investigators have identified de novo pathogenic variants in the KCNQ2 gene encoding the Kv7.2 subunit of the Kv7 / M potassium channel, a channel known to control neuronal excitability in the brain and spinal cord. via the current M (IM). Pathogenic variants of the KCNQ2 gene represent the main cause of EOEE and the term KCNQ2-related epileptic encephalopathy (KCNQ2-REE) is now used to define this condition.

KCNQ2-REE patients have a remarkably homogeneous phenotype at the start, with epilepsy that begins in the first days after birth, seizures that result in tonic muscle spasms that last from 1 to 10 seconds, and an interictal EEG called "suppression-burst". "That is, paroxysmal bursts of activity interspersed with periods of electrical silence. In this group, more than 50% of the patients present a remission of the epilepsy and a quasi-normalization of the EEG which can occur a few weeks to several months after the onset of the seizures. Despite this positive evolution in terms of seizures, the developmental progression is abnormal and the phenotype is severe with an absence of language, autistic behavior and a subsequent development of motor disorders such as diplegia, spasticity, ataxia or dystonia.

The ambition of this project is to increase knowledge of epileptic encephalopathies linked to KCNQ2 at the clinical and molecular levels, to decipher the pathophysiological mechanisms and to propose therapeutic strategies.

This project aims to better describe the clinical, EEG, imaging, developmental and long-term follow-up characteristics of patients carrying the KCNQ2 mutation identified in the laboratory.

Related Clinical Trials

Explore similar clinical trials based on study characteristics and research focus.

EEG in Children With Unilateral Cerebral Injury During Action and Action Observation(AOE)

NCT02597374

Cerebral Palsy Child

UNKNOWN NA

Registry and Natural History of Epilepsy-Dyskinesia Syndromes

NCT06967727

Epilepsy-Dyskinesia Epilepsy Dyskinesia +11 more

RECRUITING

Dual Tasking in Children With Cerebral Palsy and Healthy Children: an EEG Study

NCT04634292

Child Development

UNKNOWN

Evaluation of the Implementation of the Hemispheric Dominance During Development

NCT02826733

Neuroimaging

UNKNOWN

Treatment of Gait Disorders in Children With Dravet Syndrome

NCT03857451

Dravet Syndrome Severe Myoclonic Epilepsy of Infancy

COMPLETED

Detailed Description

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Epileptic Encephalopathy

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

COHORT

Study Time Perspective

OTHER

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

Survey

directive questionnaire administered during an individual face-to-face interview

Intervention Type OTHER

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

Inclusion Criteria

* Epilepsy beginning before 1 month of life, and requiring the initiation of anti-epileptic treatment
* Without occasional cause
* Without brain malformation explaining epilepsy
* No opposition from parents / guardians
* Possibility for parents to complete parent questionnaires

Exclusion Criteria

* Neonatal attacks of occasional cause (glycemic disorder, infection, etc.)
* Acquired neonatal epilepsy (post-anoxic encephalopathy, stroke sequelae, etc.)
* Neonatal epilepsy related to a brain malformation

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Jean Olivier Arnaud

Role: STUDY_DIRECTOR

Assistance Publique - Hôpitaux de Marseille

Locations

Explore where the study is taking place and check the recruitment status at each participating site.