Evaluation by a Vineland II Scale of Long-term Development of Children With Pyridoxine Dependent Epilepsy (EPIDEV-B6)

August 5, 2025 updated by: University Hospital, Angers

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

30

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • Angers, France, 49100
        • Chu Angers
      • Besançon, France, 25030
        • CENTRE HOSPITALIER UNIVERSITAIRE de BESANCON
      • Brest, France, 29609
        • CHRU Morvan
      • Clermont-Ferrand, France, 63003
        • CHU d'Estaing
      • Le Kremlin-Bicêtre, France, 94270
        • Hôpital Bicêtre
      • Lille, France, 59037
        • Hôpital Jeanne de Flandre
      • Marseille, France, 13005
        • Hôpital de la Timone-Enfants
      • Montpeliier, France, 34295
        • CHU Gui de Chautiac
      • Paris, France, 75749
        • Hôpital Necker-Enfants Malades
      • Saint-Nazaire, France, 44600
        • Centre Hospitalier Saint Nazaire
      • Toulouse, France, 31100
        • Chu Toulouse
      • Tours, France, 37000
        • Hôpital Clocheville

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

Cohort of patients diagnosed with pyridoxine dependent epilepsy and already published (Gibaud et al) completed with new cases.

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Baseline

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
Baseline
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.
Baseline
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.
Baseline
genotype phenotype correlation
Time Frame: baseline
study the genotype phenotype correlation in the light of patient long term neurocognitive development
baseline

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Angers

Investigators

  • Principal Investigator: Patrick VAN BOGAERT, PhD - MD, University Hospital, Angers

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

December 29, 2023

Primary Completion (Actual)

May 21, 2025

Study Completion (Actual)

May 21, 2025

Study Registration Dates

First Submitted

September 19, 2023

First Submitted That Met QC Criteria

September 19, 2023

First Posted (Actual)

September 26, 2023

Study Record Updates

Last Update Posted (Actual)

August 11, 2025

Last Update Submitted That Met QC Criteria

August 5, 2025

Last Verified

August 1, 2025

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 49RC23_0181

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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