Genotype, Phenotype, and Disease Progression of Developmental Epileptic Encephalopathy With Onset Before 2 Years of Age

NCT06278428 | Recruiting DMC

• 1 other identifier: DEE UMC
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 2

Brief Summary

According to estimates by the World Health Organization in 2019, more than 50 million people around the world have epilepsy. Nearly 80% of patients with epilepsy live in developing countries. Among them, children under 2 years old are the group with the highest incidence of epilepsy, and at the same time, the most dangerous epilepsy groups are also likely to start at these ages. World medical literature on epileptic encephalopathy and early-onset development before 2 years of age records that 71% of children have severe intellectual disability and 60% of children show signs of autism spectrum disorder, of which Children with epileptic and developmental encephalopathy due to genetic causes are at higher risk of developing neurodevelopmental disorders than children with epileptic and developmental encephalopathy due to other causes. However, in Vietnam, there is no research on this topic. The question is what are the phenotypes, genotypes, and progression after 2 years of follow-up of Vietnamese children with epileptic and developmental encephalopathy with onset before 2 years of age?

Conditions

Epilepsy; Seizure; Child Development; Gene Abnormality; Early Onset Disorder

Outcome Measures

Primary Outcomes (1)

• Genotye of early-onset developmental epileptic encephalopathy

  Describing the genotype of early-onset developmental epileptic encephalopathy

  2/2024- 4/2025

Other Outcomes (2)

• Phenotye of early-onset developmental epileptic encephalopathy

  2/2024-4/2025

• Progression of epileptic encephalopathy and early onset developmental epileptic encephalopathy

  4/2025-4/2027

Study Arms (1)

early onset developmental epileptic encephalopathy

Select one that meets all 5 of the following criteria: 1. Diagnosed with EIDEE or EIMFS or ISS or SMEI or EMAS (according to ILAE's diagnostic criteria 2022) 2. Diagnosed with drug-resistant epilepsy according to ILAE 2010 criteria (according to ILAE's diagnostic criteria 2010) 3. Age at the start of participating in the study ranged from 0 to 23 months old 4. Relatives agree to participate in the research 5. There is no medical history of any diagnosis of hypoxic encephalopathy or inflammatory encephalopathy or traumatic encephalopathy or cerebral infarction or cerebral hemorrhage.

Eligibility Criteria

• Age: Up to 23 Months
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

The study population was patients with severe, early-onset epilepsy, suspected of having a genetic etiology

You may qualify if:

• Diagnosed with Early infantile developmental and epileptic encephalopathy or Epilepsy of infancy with migrating focal seizures or infantile spasms syndrome or severe myoclonic epilepsy of infancy or Epilepsy with myoclonic-atonic seizures
• Diagnosed with drug-resistant epilepsy according to ILAE 2010 criteria
• Age at the start of participating in the study ranged from 0 to 23 months old
• Relatives agree to participate in the research
• There is no medical history of any diagnosis of hypoxic encephalopathy or inflammatory encephalopathy or traumatic encephalopathy or cerebral infarction or cerebral hemorrhage.

You may not qualify if:

• Patients were removed from the study when they were lost to follow-up at 6 months

Sponsors & Collaborators

• Number 2 Children's Hospital, Ho Chi Minh City: lead

Study Sites (2)

Children hospital number 2

Ho Chi Minh City, 700000, Vietnam

RECRUITING

University of Medicine and Pharmacy at Ho Chi Minh city

Ho Chi Minh City, Vietnam

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

blood

MeSH Terms

Conditions

Epilepsy

Condition Hierarchy (Ancestors)

Brain Diseases; Central Nervous System Diseases; Nervous System Diseases

Central Study Contacts

Thuy-Minh-Thu Thuy Minh NGUYEN, MD

CONTACT

+84983966371; dr.thu.nguyen.neurology@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Target Duration: 24 Months
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Principal Investigator

Study Record Dates

• First Submitted: February 19, 2024
• First Posted: February 26, 2024
• Study Start: February 27, 2024
• Primary Completion (Estimated): November 1, 2028
• Study Completion (Estimated): November 1, 2028
• Last Updated: January 9, 2025

Record last verified: 2025-01

Locations

VN (2)