Register of patients with neonatal-onset epileptic encephalopathy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• Hôpital La Timone
  Marseille, France Recruiting
• APHP Pitié Salpêtrière
  Paris, France Recruiting
• 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

Study contacts

• Study coordinator: Mathieu Milh
• Email: mathieu.milh@ap-hm.fr
• Phone: 0491322903

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Other studies for the same condition or treatment. Recruiting studies are listed first.

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.