Register of patients with neonatal-onset epileptic encephalopathy

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

This study is trying to gather information about babies with neonatal-onset epileptic encephalopathy to see how genetic factors, especially changes in the KCNQ2 gene, affect their condition and help improve treatment options.

Quick facts

• Study type: Observational
• Enrollment: 200 (estimated)
• Sex: All
• Sponsor: Assistance Publique Hopitaux De Marseille (other)
• Locations: 15 sites (Angers and 14 other locations)
• Trial ID: NCT04802135 on ClinicalTrials.gov

What this trial studies

This observational study aims to create a register for patients diagnosed with neonatal-onset epileptic encephalopathy (EOEE), a severe condition characterized by early-onset epilepsy and rapid deterioration of cognitive and motor skills. The study focuses on identifying genetic factors, particularly pathogenic variants in the KCNQ2 gene, which are known to play a significant role in this condition. By collecting data through surveys and questionnaires completed by parents, the study seeks to better understand the clinical features and genetic underpinnings of KCNQ2-related epileptic encephalopathy. The findings may help in developing targeted therapies and improving patient management.

Who should consider this trial

Good fit: Ideal candidates include infants diagnosed with epilepsy that begins before one month of age and requires anti-epileptic treatment without identifiable causes.

Not a fit: Patients with neonatal epilepsy due to identifiable causes such as infections or brain malformations may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved understanding and management of neonatal-onset epileptic encephalopathy, potentially guiding future treatments.

How similar studies have performed: While the genetic basis of EOEE is being explored, this specific approach to creating a patient register is relatively novel and has not been extensively tested in similar studies.

Eligibility criteria

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

Where this trial is running

Angers and 14 other locations

• 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, 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)

Study contacts

• Study coordinator: Mathieu Milh

Conditions: Epileptic Encephalopathy, EOEE, epilepsy, KCNQ2