EPIDEV-B6: Evaluation by a Vineland II Scale of Long-term Development of Children With Pyridoxine Dependent Epilepsy
Study Details
Study Description
Brief 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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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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 Design
Outcome Measures
Primary Outcome Measures
- Vineland II Adaptive Behaviour scales (VABS) total mean score and subscale mean scores [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 Outcome Measures
- 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 [Baseline]
Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible
- Evaluation of executive functions with the BRIEF scale [Baseline]
Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible. 87 questions. 15 minutes duration.
- Clinical and para-clinical description of the population studied [Baseline]
Questionnaire filled by the investigator during an interview with the parents or the patient himself if possible.
Eligibility Criteria
Criteria
Inclusion Criteria:
-
Age above 3 years old
-
Pyridoxine dependent epilepsy genetic diagnosis (mutation in ALDH7A1 gene)
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No objection of the patient or his legal representatives.
Exclusion Criteria:
- Poor understanding of French language.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | CHU Angers | Angers | France | 49100 |
Sponsors and Collaborators
- University Hospital, Angers
Investigators
- Principal Investigator: Patrick VAN BOGAERT, PhD - MD, University Hospital, Angers
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 49RC23_0181