Actively Recruiting

Age: 0 - 23Months
All Genders
ID06278428

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

Led by Number 2 Children's Hospital, Ho Chi Minh City · Updated on 2025-01-09

50

Participants Needed

2

Research Sites

N/A

Total Duration

On this page

AI-Summary

What this Trial Is About

Researchers are studying the genotypes, phenotypes, and disease progression of developmental epileptic encephalopathy in Vietnamese children who develop the condition before 2 years of age. This severe form of epilepsy often leads to intellectual disability and autism spectrum disorders, especially when caused by genetic factors. Despite its high incidence and impact, there is limited research on this topic in Vietnam. The study follows children diagnosed with specific early-onset epileptic encephalopathies, including drug-resistant cases, as defined by international criteria. Participants are aged from birth up to 23 months at enrollment. Researchers will observe and analyze the genetic profiles and clinical features of these children over a two-year period to understand how the disease progresses. During the study, children will be monitored through genetic testing and clinical evaluations to track changes in their condition. The primary outcome being measured is the genotype associated with early-onset developmental epileptic encephalopathy, assessed between February 2024 and April 2025. This observational study aims to provide insights that may improve treatment and management strategies for affected children.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 0 - 23Months
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • 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
  • No medical history of hypoxic encephalopathy, inflammatory encephalopathy, traumatic encephalopathy, cerebral infarction, or cerebral hemorrhage
Not Eligible

You will not qualify if you...

  • Patients lost to follow-up at 6 months

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Diagnostic Evaluation

Duration - Up to 2 months

Participants undergo evaluations to confirm diagnosis of early-onset developmental epileptic encephalopathy and related syndromes according to established criteria.

1 to 2 visits depending on diagnostic procedures

Long-term Monitoring

Duration - Up to 4 years

Participants are monitored over time to observe genotype, phenotype, and disease progression, supporting early intervention and treatment planning.

Regular follow-up visits over the course of the study

Trial Site Locations

Total: 2 locations

1

Children hospital number 2

Ho Chi Minh City, Vietnam, 700000

Actively Recruiting

2

University of Medicine and Pharmacy at Ho Chi Minh city

Ho Chi Minh City, Vietnam

Actively Recruiting

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Research Team

T

Thuy-Minh-Thu Thuy Minh NGUYEN, MD

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

1

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