About Bolder Science

Our mission is to provide healthcare professionals with unbiased clinical research information, easily.

Currently, you can access the following clinical trials being conducted worldwide:

359,057 studies
in
219 countries
Clinical trial information and results are updated daily from ClinicalTrials.gov. The latest data update was conducted on 01/17/2021.
This website is for US healthcare professionals

Log In to Bolder Science

or

Don't have an account? Sign Up

Please enter your email address.

You will receive a link to create a new password via email.

Log In

Create an Account

or
(optional) ?

Welcome, !

Please complete the following 4 questions to ensure you receive the information that best suits your needs.

Clinical Trials of Interest

When I’m looking for information on clinical trials, I usually am interested in...

finding clinical trials in which to enroll my patients

Rarely Often

finding newly launched clinical trials (for all phases)

Rarely Often

updates on status changes for clinical trials

Rarely Often

pipeline molecules

Rarely Often

Drug Interventions

Enter up to 3 drug interventions you are currently interested in:

Clinical trial information and results are updated daily from ClinicalTrials.gov. The latest data update was conducted on 01/17/2021.

A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy

Clinicaltrials.gov identifier NCT03934268

Recruitment Status Recruiting

First Posted May 1, 2019

Last update posted May 1, 2019

Study Description

Brief summary:

The researchers hope to explore the etiological distribution and influencing factors of KCNQ2-related neonatal convulsions or refractory epileptic encephalopathy, and to improve the level of assessment, identification, intervention and shunt of KCNQ2-related convulsions. To formulate countermeasures and measures for prevention, management and health education.

  • Condition or Disease:Seizures
    Seizure Disorder
    Seizure Newborn
    Seizures, Generalized
    Epileptic Encephalopathy
    Epileptic Encephalopathy, Neonatal-onset
    Epileptic Encephalopathy, Infant-onset
    KCNQ2
  • Intervention/Treatment: Genetic: KCNQ2
  • Phase: N/A
Detailed Description

Convulsion is the most common clinical manifestation of neonatal central nervous system dysfunction. the incidence of convulsion is very high in neonatal period, especially in the first week after birth. the incidence of convulsion decreases gradually with the increase of age. The incidence of convulsion reported by Bassan et al was 1.5 ‰ ~ 3.5 ‰ in term infants and 10% ≤ 130% in premature infants. Most of the neonatal convulsions suggest that there are serious primary diseases in the body. in addition to hypoxic-ischemic encephalopathy, intracranial hemorrhage and infection, a large number of studies have proved that genetic factors play a key role in the occurrence of neonatal convulsions and epileptic encephalopathy in infants. Nearly 20% to 50% of neonatal convulsions are idiopathic convulsions. it has been thought that KCNQ2 gene, a potassium channel subunit located in 20q11.3, and KCNQ3 gene, another potassium channel subunit located in 8q24, are mutated. Is the molecular basis for some benign familial neonatal convulsions, Usually the prognosis is good, but with the expansion of the study sample, investigators found that KCNQ2 may be associated with refractory epileptic encephalopathy, and there are few international reports in this regard. The study of KCNQ2 gene has led to a new understanding of the etiology of neonatal convulsion. The researchers hope to explore the etiological distribution and influencing factors of KCNQ2-related neonatal convulsions or refractory epileptic encephalopathy, and to improve the level of assessment, identification, intervention and shunt of KCNQ2-related convulsions. To formulate countermeasures and measures for prevention, management and health education.

Study Design
  • Study Type: Observational
  • Estimated Enrollment: 100 participants
  • Observational Model: Cohort
  • Time Perspective: Prospective
  • Official Title: A Cohort Study on the Prognosis of Neonatal KCNQ2 Gene-associated Epileptic Encephalopathy
  • Estimated Study Start Date: May 2019
  • Estimated Primary Completion Date: December 2022
  • Estimated Study Completion Date: December 2022
Groups and Cohorts
Groups/Cohorts Intervention/treatment
: infants with seizure with KCNQ2 gene mutation.
Infants who met the inclusion criteria were enrolled in this study. The infants will get their own DNA sequencing results by WES technology. The researchers found that some of them carried mutations in the KCNQ2 gene. so they wanted to compare whether there were differences with or without KCNQ2 gene mutations in the efficacy of anticonvulsants or long-term neurodevelopment in different exposure groups.
Genetic: KCNQ2
The researchers extracted DNA from the baby's serum and sent it to WES to get the baby's total exon sequence.
Outcome Measures
  • Primary Outcome Measures: 1. Incidence of seizure in children with KCNQ2 within 28 days of age [ Time Frame: From birth to under 28 days of age ]
    The investigators used WES to screen for neonatal onset seizure and calculated the incidence of KCNQ2 gene mutations in these neonates.
  • Secondary Outcome Measures: 1. Recurrence rate of KNCQ2 gene-related convulsion in children under 1 year of age [ Time Frame: From birth to under 1 year of age ]
    Some neonates with seizure associated with KCNQ2 gene mutation will develop epileptic encephalopathy or syndrome at a later stage. The researchers calculated the probability of recurrent seizures or progression in neonates with seizure associated with KCNQ2 gene mutations within the age of one year.
  • 2. Efficacy of first-line anticonvulsants in children with KCNQ2 gene-related convulsions [ Time Frame: From the beginning of drug intervention to 72 hours after taking the drug. ]
    Some non-benign KCNQ2 gene-related convulsions require anticonvulsant intervention, and investigators hope to observe and obtain the effective rate of first-line anticonvulsant intervention. To determine whether the convulsion stopped or the frequency of convulsion decreased within 72 hours after taking the drug. If convulsions stop or the frequency of seizures decreases, drug intervention is considered effective.
  • 3. Scores of bayley III Neurodevelopmental scale [ Time Frame: The infants will be evaluated by bayley Neurodevelopment scale at the age of about two years. ]
    The investigators plan to use the bayley Neurodevelopmental scale to assess the neurodevelopmental status of infants with KCNQ2 gene-associated epileptic encephalopathy within 2 years of age.
  • Biospecimen Retention: Samples With DNA

    The researchers retained the neonates' or infants' 2ml serum as a biological sample for the Whole Exon Sequencing.

Eligibility Criteria
  • Ages Eligible for Study: up to 28 / (18 to 64 years)
  • Sexes Eligible for Study: All
  • Accepts Healthy Volunteers: No
  • Sampling Method: Probability Sample
  • Study Population: The subjects came from sub-central hospitals and the newborns were hospitalized in the neonatal department for primary seizure.
Criteria

Inclusion Criteria:

- Primary or initial convulsion

- Postnatal age <28 days. - Seizure in the neonatal period - Informed consent of parents Exclusion Criteria: - Seizure caused by congenital cerebral hypoplasia or multiple structural malformations. - Seizure caused by other system-related syndromes. - Seizure caused by perinatal or postpartum factors such as HIE, infection, intracranial hemorrhage, etc.

Contacts and Locations
Contacts

Contact: Wenhao Zhou, Prof. (+86) 021-64931168 zwhchfu@126.com

Contact: Lin Yang, Doctor (+86)021-64931168 yanglin_fudan@163.com

Locations

China, Shanghai
Children Hospital of Fudan University
Shanghai

Sponsors and Collaborators

Children's Hospital of Fudan University

Investigators

Study Chair: Wenhao Zhou, Prof. Children Hospital of Fudan University

More Information