Evaluating long-term development in children with Pyridoxine-Dependent Epilepsy
Standardized Evaluation of Long-term Neurocognitive Development of Children from Age 3 with Pyridoxine Dependent Epilepsy by Antiquitine Deficiency
This study is trying to see how children over 3 years old with Pyridoxine-Dependent Epilepsy develop their thinking and daily living skills over time.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 30 (estimated) |
| Ages | 3 Years and up |
| Sex | All |
| Sponsor | University Hospital, Angers Government |
| Locations | 12 sites (Angers and 11 other locations) |
| Trial ID | NCT06054347 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are children aged 3 years and older diagnosed with Pyridoxine-Dependent Epilepsy due to a genetic mutation in the ALDH7A1 gene.
Not a fit: Patients who do not understand the French language may not benefit from this study due to the language requirements for participation.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of neurodevelopmental outcomes in children with Pyridoxine-Dependent Epilepsy.
How similar studies have performed: Very few studies have evaluated the cognitive development of these patients in a standardized way, making this approach relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
Angers and 11 other locations
- CHU Angers — Angers, France (Recruiting)
- Centre Hospitalier Universitaire de Besançon — Besançon, France (Not_yet_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)
- CHU Gui de Chautiac — Montpeliier, France (Recruiting)
- Hôpital Necker-Enfants malades — Paris, France (Recruiting)
- Centre Hospitalier Saint Nazaire — Saint-Nazaire, France (Not_yet_recruiting)
- CHU Toulouse — Toulouse, France (Recruiting)
- Hôpital Clocheville — Tours, 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.