Clinical Trial Details
— Status: Recruiting
Administrative data
NCT number |
NCT06278428 |
Other study ID # |
DEE UMC |
Secondary ID |
|
Status |
Recruiting |
Phase |
|
First received |
|
Last updated |
|
Start date |
November 1, 2023 |
Est. completion date |
November 1, 2028 |
Study information
Verified date |
February 2024 |
Source |
Number 2 Children's Hospital, Ho Chi Minh City |
Contact |
Thuy-Minh-Thu Thuy Minh NGUYEN, MD |
Phone |
+84983966371 |
Email |
dr.thu.nguyen.neurology[@]gmail.com |
Is FDA regulated |
No |
Health authority |
|
Study type |
Observational [Patient Registry]
|
Clinical Trial 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?
Description:
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. In Vietnam, the incidence of epilepsy is approximately 40 per 100,000 per year.
The incidence of the disease in children is higher than in adults. Among them, children under
2 years old are the group with the highest incidence of epilepsy, and at the same time, the
most dangerous groups of epilepsy are also likely to start at these ages, such as West
syndrome, Dravet syndrome, and Dravet syndrome. Ohtahara syndrome. These syndromes belong to
the group of epileptic and developmental encephalopathies. This group of diseases can be
caused by many causes, such as structural, metabolic, infectious, and genetic causes.
However, in children and young people, genetic causes are more common.
Thanks to the development of biotechnology and genetics, medicine is now discovering more and
more genes related to epilepsy syndromes that begin before 2 years of age, which helps choose
treatment methods for the disease. causes of epilepsy such as using the keto diet in children
with loss-of-function mutations in SLC2A1 or avoiding sodium channel blockers in children
with Dravet syndrome due to loss-of-function mutations in SCN1A. In addition, children with
epileptic and developmental encephalopathy due to genetic causes are also at higher risk of
global developmental delay and autism spectrum disorders. Therefore, monitoring the progress
of children with epileptic and developmental encephalopathy due to genetic causes plays an
important role in early intervention, helping to improve disease prognosis.
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. In our country, there have been a number of studies on epileptic and
developmental encephalopathy, as follows: A study conducted at Children's Hospital 2 showed
the detection rate of gene mutations in patients with epileptic encephalopathy. menstruation
and development is 38%, mainly SCN1A genotype mutation and Dravet syndrome phenotype. Another
study that followed the short-term course of epileptic and developmental encephalopathy
patients on the keto diet found that the majority of Dravet syndrome patients responded well
to this treatment. However, studies in our country only describe genotypes and phenotypes
separately without including progression, or only monitor the progression of phenotypes with
treatment methods without paying attention to genotypes, or do not focus on focuses on
studying the group of epileptic and developmental encephalopathies with onset before 2 years
of age, which is the group with the highest incidence and most danger. Furthermore, most
studies are cross-sectional or only monitor short-term progress. Therefore, the question is
what is the phenotype, genotype, and progression after 2 years of follow-up of children with
epileptic and developmental encephalopathy with onset before 2 years of age? We want to
conduct this study to answer the above question.
Researching this issue will make an important contribution to a better understanding of the
genotype, phenotype, and course of epileptic and developmental encephalopathies, thereby
aiding the treatment and management of the disease.