Evaluation by a Vineland II Scale of Long-term Development of Children with Pyridoxine Dependent Epilepsy

Recruiting

• Conditions: Pyridoxine-Dependent Epilepsy

• Registration Number: NCT06054347
• Lead Sponsor: University Hospital, Angers

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 B6 (Pyridoxine) which is usually highly effective to control the seizures. However, most patients show impaired neurodevelopment.

Ten years ago, international recommendations have changed and a lysine restricted diet was added as an adjunct therapy with the hope to improve neurodevelopment.

Very few studies have evaluated the cognitive development of these patients in a standardized way, and these studies evaluate very few patients.

It seems therefore essential to study in a standardized way the neurocognitive development of these patients in order to evaluate the impact of the care.

The VINELAND adaptative behaviour scale II has been chosen because it can evaluate a patient whatever the age or the intellectual abilities through a semi-structured questionnaire completed with the parents, and gives a wide view of the neurocognitive development and everyday life autonomy of the patients.

Study Timeline

• Study First Submitted: 2023-09-19
• Study First Submitted QC: 2023-09-19
• Study First Posted: 2023-09-26
• Study Start: 2023-12-29
• Status Verified: 2024-12
• Last Update Submitted: 2025-03-18
• Last Update Posted: 2025-03-21
• Primary Completion: 2025-09-30
• Study Completion: 2025-09-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 30

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.

Exclusion Criteria

• Poor understanding of French language.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Vineland II Adaptive Behaviour scales (VABS) total mean score and subscale mean scores	Baseline	Standardized questionnaire filled by the investigator during an interview with the parents or the patient himself if possible. 5 domains. Maximum score 160, minimum score 20, mean score 100, standard deviation 15

Secondary Outcome Measures

Name	Time	Method
Determine if the treatments actually used for patients with pyridoxine dependent epilepsy have an impact on their long-term neurocognitive development, especially the lysine restricted diet	Baseline	Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible
Evaluation of executive functions with the BRIEF scale	Baseline	Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible. 87 questions. 15 minutes duration.
Clinical and para-clinical description of the population studied	Baseline	Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible.
genotype phenotype correlation	baseline	study the genotype phenotype correlation in the light of patient long term neurocognitive development

Trial Locations

Locations (12)

CHU Gui de Chautiac; 🇫🇷 Montpeliier, France

CHU Angers; 🇫🇷 Angers, France

Centre Hospitalier Universitaire de Besançon; 🇫🇷 Besançon, France

CHRU Morvan; 🇫🇷 Brest, France

CHU d'Estaing; 🇫🇷 Clermont-Ferrand, France

Hôpital Bicêtre; 🇫🇷 Le Kremlin-Bicêtre, France

Hôpital Jeanne de Flandre; 🇫🇷 Lille, France

Hôpital de la Timone-Enfants; 🇫🇷 Marseille, France

Hôpital Necker-Enfants malades; 🇫🇷 Paris, France

Centre Hospitalier Saint Nazaire; 🇫🇷 Saint-Nazaire, France

CHU Toulouse; 🇫🇷 Toulouse, France

Hôpital Clocheville; 🇫🇷 Tours, France