Informations générales (source: ClinicalTrials.gov)
Standardized Evaluation of Long-term Neurocognitive Development of Children from Age 3 with Pyridoxine Dependent Epilepsy by Antiquitine Deficiency (EPIDEV-B6)
Observational
University Hospital, Angers (Voir sur ClinicalTrials)
décembre 2023
septembre 2025
05 avril 2025
This study aims to evaluate with the VINELAND II scale the long-term neurocognitive
development of children above age 3 years with pyridoxine dependent epilepsy related to
antiquitine deficiency.
Etablissements
| Les établissements d'Île-de-France dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| AP-HP - Hôpital Necker-Enfants Malades | Manoëlle KOSSOROTOFF | Contact (sur clinicalTrials) | |||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| Centre Hospitalier Saint Nazaire - 44600 - Saint-Nazaire - France | Marc GIBAUD | Contact (sur clinicalTrials) | |||
| Centre Hospitalier Universitaire de Besançon - 25030 - Besançon - France | Cecilia ALTUZARRA_DESMETTRE | Contact (sur clinicalTrials) | |||
| CHRU Morvan - 29609 - Brest - France | Elise SACAZE, MD | Contact (sur clinicalTrials) | |||
| CHU Angers - 49100 - Angers - France | Patrick VAN BOGAERT, PhD - MD | Contact (sur clinicalTrials) | |||
| CHU d'Estaing - 63003 - Clermont-Ferrand - France | Ganaëlle REMERAND | Contact (sur clinicalTrials) | |||
| CHU Gui de Chautiac - 34295 - Montpeliier - France | Agathe ROUBERTIE | Contact (sur clinicalTrials) | |||
| CHU Toulouse - 31100 - Toulouse - France | Magali GORCE | Contact (sur clinicalTrials) | |||
| Hôpital Bicêtre - 94270 - Le Kremlin-Bicêtre - France | Helene MAUREY | Contact (sur clinicalTrials) | |||
| Hôpital Clocheville - 37000 - Tours - France | François LABARTHE | Contact (sur clinicalTrials) | |||
| Hôpital de la Timone-Enfants - 13005 - Marseille - France | Mathieu MILH | Contact (sur clinicalTrials) | |||
| Hôpital Jeanne de Flandre - 59037 - Lille - France | Karine MENTION | Contact (sur clinicalTrials) | |||
Critères
Tous
Inclusion Criteria:
- Age above 3 years old
- Pyridoxine dependent epilepsy genetic diagnosis (mutation in ALDH7A1 gene)
- No objection of the patient or his legal representatives.
- Age above 3 years old
- Pyridoxine dependent epilepsy genetic diagnosis (mutation in ALDH7A1 gene)
- No objection of the patient or his legal representatives.
- Poor understanding of French language.