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Completed

NCT Number: NCT06054347

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

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.

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Key information

Conditions

Pyridoxine-Dependent Epilepsy

Age range

3 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

CHU Angers, Angers, France

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

VINELAND II

Other

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.

Primary outcomes

  1. Vineland II Adaptive Behaviour scales (VABS) total mean score and subscale mean scores

    Time frame: 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 outcomes

  1. 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

    Time frame: Baseline

    Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible

  2. Evaluation of executive functions with the BRIEF scale

    Time frame: Baseline

    Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible. 87 questions. 15 minutes duration.

  3. Clinical and para-clinical description of the population studied

    Time frame: Baseline

    Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible.

  4. genotype phenotype correlation

    Time frame: baseline

    study the genotype phenotype correlation in the light of patient long term neurocognitive development

Sponsors and collaborators

Lead sponsor

University Hospital, Angers

Other Gov

Registry information

Official study title

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

Acronym: EPIDEV-B6

Important dates

Study start
2023
Primary completion
2025
Study completion
2025
First posted
Sep 26, 2023
Registry last updated
Aug 11, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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