Evaluating long-term development in children with Pyridoxine-Dependent Epilepsy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to assess the long-term neurocognitive development of children over the age of 3 who have Pyridoxine-Dependent Epilepsy due to antiquitine deficiency. Utilizing the Vineland II scale, the study will gather data through a semi-structured questionnaire completed by parents, providing insights into the patients' cognitive abilities and daily living skills. The research seeks to standardize the evaluation of cognitive development in this rare condition, especially in light of recent dietary recommendations that may influence outcomes.

Why it matters

Who can join: the full rules

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.

Where it's running

• CHU Angers
  Angers, France Recruiting
• CHRU Morvan
  Brest, France Recruiting
• CHU d'Estaing
  Clermont-Ferrand, France Recruiting
• Hôpital Bicêtre
  Le Kremlin-Bicêtre, France Recruiting
• Hôpital Jeanne de Flandre
  Lille, France Recruiting
• Hôpital de la Timone-Enfants
  Marseille, France Recruiting

Study contacts

• Principal investigator: Patrick VAN BOGAERT, PhD - MD — University Hospital, Angers
• Study coordinator: Patrick VAN BOGAERT, PhD - MD
• Email: Patrick.VanBogaert@chu-angers.fr
• Phone: 0033241354846

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.