NCT06054347

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

Standardized Evaluation of Long-term Neurocognitive Development of Children From Age 3 With Pyridoxine Dependent Epilepsy by Antiquitine Deficiency

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 30 (actual)
• Sponsor: University Hospital, Angers · Other Government
• Sex: All
• Age: 3 Years
• Healthy volunteers: Not accepted

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.

Conditions

• Pyridoxine-Dependent Epilepsy

Interventions

Type	Name	Description
OTHER	VINELAND II	Standardised questionnaire filled by the investigator during an interview with the parents or with the patient himself if capable of it. Duration 1 hour to 1 hour and a half.

Timeline

• Start date: 2023-12-29
• Primary completion: 2025-05-21
• Completion: 2025-05-21
• First posted: 2023-09-26
• Last updated: 2025-08-11

Locations

12 sites across 1 country: France