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

NCT04802135 | Recruiting

• 2 other identifiers: 2019-51ID-RCB
• Study Type: observational
• Target: 200
• Locations: 1 country
• Sites: 15

Brief Summary

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.

Conditions

Epileptic Encephalopathy

Keywords

EOEE; epilepsy; KCNQ2

Outcome Measures

Primary Outcomes (2)

• importance of the developmental disorder

  Developmental quotient

  Month 36

• definition of the active phase of epilepsy

  Presence of at least monthly seizures and interictal EEG showing paroxysmal abnormalities

  Month 36

Interventions

Survey OTHER

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

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Retrospective observational study initially then prospective with inclusion of all patients with a KCNQ2-REE whose diagnosis was made in the EPIGENE network

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Assistance Publique Hopitaux De Marseille: lead

Study Sites (15)

CHU Angers

Angers, France

NOT YET RECRUITING

CHU Bordeaux

Bordeaux, France

NOT YET RECRUITING

CHU Brest

Brest, France

NOT YET RECRUITING

CHRU Lille

Lille, France

NOT YET RECRUITING

CHU Limoges

Limoges, France

NOT YET RECRUITING

Hospices Civils Lyon

Lyon, France

NOT YET RECRUITING

Hôpital La Timone

Marseille, 13005, France

RECRUITING

CHU Montpellier

Montpellier, France

NOT YET RECRUITING

APHP Pitié Salpêtrière

Paris, France

RECRUITING

APHP Robert Debré

Paris, France

NOT YET RECRUITING

Hôpital Necker

Paris, France

NOT YET RECRUITING

CHU Rennes

Rennes, France

NOT YET RECRUITING

CHRU Strasbourg

Strasbourg, France

NOT YET RECRUITING

CHU Toulouse

Toulouse, France

NOT YET RECRUITING

CHU Tours

Tours, France

NOT YET RECRUITING

MeSH Terms

Conditions

Epilepsy

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Jean Olivier Arnaud

  Assistance Publique - Hôpitaux de Marseille

  STUDY DIRECTOR

Central Study Contacts

Mathieu Milh

CONTACT

0491322903; mathieu.milh@ap-hm.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: March 14, 2021
• First Posted: March 17, 2021
• Study Start: March 6, 2021
• Primary Completion (Estimated): September 1, 2029
• Study Completion (Estimated): September 1, 2032
• Last Updated: November 20, 2025

Record last verified: 2025-11

Data Sharing

• IPD Sharing: Will not share

Locations

FR (15)