Status:
COMPLETED
Evaluation by a Vineland II Scale of Long-term Development of Children With Pyridoxine Dependent Epilepsy
Lead Sponsor:
University Hospital, Angers
Conditions:
Pyridoxine-Dependent Epilepsy
Eligibility:
All Genders
3+ years
Brief 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.
Detailed Description
Pyridoxine dependent epilepsy related to antiquitine deficiency is a rare and severe genetic epilepsy that usually starts within the first month of life. The treatment is based on high dose of Vitamin...
Eligibility Criteria
Inclusion
- Age above 3 years old
- Pyridoxine dependent epilepsy genetic diagnosis (mutation in ALDH7A1 gene)
- No objection of the patient or his legal representatives.
Exclusion
- Poor understanding of French language.
Key Trial Info
Start Date :
December 29 2023
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
May 21 2025
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT06054347
Start Date
December 29 2023
End Date
May 21 2025
Last Update
August 11 2025
Active Locations (12)
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1
CHU Angers
Angers, France, 49100
2
Centre Hospitalier Universitaire de Besançon
Besançon, France, 25030
3
CHRU Morvan
Brest, France, 29609
4
CHU d'Estaing
Clermont-Ferrand, France, 63003