Genetic Investigations in Children With Developmental and Epileptic Encephalopathies in Ho Chi Minh City, Vietnam

Launched by NUMBER 2 CHILDREN'S HOSPITAL, HO CHI MINH CITY · Feb 1, 2023

Keywords

ClinConnect Summary

This clinical trial is focused on understanding the genetic causes of developmental and epileptic encephalopathies (DEE) in children in Ho Chi Minh City, Vietnam. It aims to find out how often doctors can identify a specific genetic reason for epilepsy and developmental delays in these children. The study will involve about 150 children aged between 1 month and 3 years who have drug-resistant epilepsy or severe developmental delays. To participate, children must have experienced seizures or developmental issues that started before they were 3 years old, and their parents or guardians must agree to take part in the study.

Participants in the trial will undergo a genetic test called whole exome sequencing, which looks at many genes at once to find any that might be linked to their condition. The results could help doctors customize treatments for these children based on their specific genetic findings. It's important to know that children with certain other medical conditions will not be included in the study, as the focus is specifically on those whose epilepsy is difficult to treat and who have significant developmental challenges. Through this research, the hope is to improve our understanding and management of early-onset epilepsy in Vietnam.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Drug-resistant epilepsy, either from onset, or at follow-up, according to ILAE 2010 criteria
• • Severe developmental delay or regression, according to paediatric neurologist evaluation (or developmental quotient \<50, if formally assessed)
• • Age of onset of principal symptoms (Seizures, Developmental delay): 0-36 months
• • Agreement to take part in the study and signed consent form
• Exclusion Criteria:
• • Patients with identified structural, infectious or inflammatory causes (such as perinatal hypoxic-ischemic encephalopathy, Cerebrovascular disorders, Sequelae of trauma or encephalitis, neurocutaneous disorders, etc...) will not be asked to take part to the study.