Standardized Evaluation of Long-term Neurocognitive Development of Children From Age 3 With Pyridoxine Dependent Epilepsy by Antiquitine Deficiency
Status: Completed
Location: See all (12) locations...
Intervention Type: Other
Study Type: Observational
SUMMARY
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.
Eligibility
Participation Requirements
Sex: All
Minimum Age: 3
Healthy Volunteers: f
View:
• Age above 3 years old
• Pyridoxine dependent epilepsy genetic diagnosis (mutation in ALDH7A1 gene)
• No objection of the patient or his legal representatives.
Locations
Other Locations
France
CHU Angers
Angers
Centre Hospitalier Universitaire de Besançon
Besançon
CHRU Morvan
Brest
CHU d'Estaing
Clermont-ferrand
Hôpital Bicêtre
Le Kremlin-bicêtre
Hôpital Jeanne de Flandre
Lille
Hôpital de la Timone-Enfants
Marseille
CHU Gui de Chautiac
Montpeliier
Hôpital Necker-Enfants malades
Paris
Centre Hospitalier Saint Nazaire
Saint-nazaire
CHU Toulouse
Toulouse
Hôpital Clocheville
Tours
Time Frame
Start Date: 2023-12-29
Completion Date: 2025-05-21
Participants
Target number of participants: 30
Related Therapeutic Areas
Sponsors
Leads: University Hospital, Angers