Etiology and Treatment of Neonatal Seizure

September 19, 2023 updated by: Children's Hospital of Fudan University

Gene Profiling and Individualized Treatment of Neonatal Seizure in China

Genetic diagnosis for neonates suffering from epilepsy has important implications for treatment, prognosis, and development of precision medicine strategies. Investigator performed exome sequencing (ES) or targeted sequencing on neonates with seizure onset within the first month of life. Investigator subgrouped our patients based on the onset age of seizure into neonatal and before 1 year (1-12 months), to compare the clinical and genetic features and treatment strategies.

Study Overview

Status

Recruiting

Conditions

Detailed Description

Seizure is one of the most common neurological conditions in neonates, and has substantial impact on patients'quality of life and social integration. Epileptic encephalopathy is characterized by refractory seizures, cognitive dysfunction, and poor prognosis. Despite the recent progress in technology, molecular diagnosis of neonates suffering from possible epileptic seizures can be challenging, due to genetic and phenotypic heterogeneities. A large number of specific pathogenic variations have been related to various forms of epilepsies. Next-generation sequencing (NGS) has significantly improved the molecular diagnosis for rare diseases. NGS focusing on genes known to be associated with human diseases is a practical approach as a first-tier assessment for patients with heterogeneous genetic background. In addition, currently medical therapy for seizure is not based on the etiology, but the clinical manifestations, and the main purpose is not to rescue the underlying diseases process, but just to reduce the likelihood of seizures occurrence. In this study, Investigator performed NGS on neonates with seizure onset before 1 year of age, to detect and quantify genetic variants, and assess existing therapeutic effects. Our findings will have important implications for the development of precision medicine strategies.

Study Type

Observational

Enrollment (Estimated)

2000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • China
    • Shanghai
      • Shanghai, Shanghai, China, 201102
        • Recruiting
        • Children Hospital of Fudan University
        • Contact:
          • Wenhao Zhou, Doctor
          • Phone Number: (+86)021-64931003
          • Email: zwhchfu@126.com

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 1 year (Child)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

The subjects were treated in the Department of Neonatology of Children Hospital of Fudan University. All samples in this study were collected with appropriate informed consent and approval of the ethics committee of Children's Hospital, Fudan University. The methods used in this study were carried out in accordance with the approved guidelines.

Description

Inclusion Criteria:

  • severe seizures in neonates or generalized epilepsy or intractable epilepsy in infancy with generalized tonic-clonic seizures,
  • seizures onset before 1 year of age,
  • epileptic syndromes/epileptic-encephalopathies with unknown etiology.

Exclusion Criteria:

  • Patients were excluded if they had traumas, central nervous system infections, hypoxic-ischemic encephalopathy, vascular events, systemic infections, and diagnosed metabolic disorders, and pathogenic copy-number variants were identified using array-based comparative genomic hybridization (CGH).

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Mutation rate of common seizure genes
Time Frame: From the oneset of seizure to the genetic sequencing finish, the process may last up to 3 months.
We'll get the genetic profiles of all neonates who had seizures during this period. The mutation rate of common variant gene was calculated by gene spectrum.
From the oneset of seizure to the genetic sequencing finish, the process may last up to 3 months.
Rate of seizure free
Time Frame: From the onset of seizure to 6 months after the onset of seizure
After the onset of seizure, through clinical management and individualized intervention, we expect to observe the number and proportion of effective seizure treatments.
From the onset of seizure to 6 months after the onset of seizure

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital of Fudan University

Investigators

  • Study Chair: Wenhao Zhou, Doctor, Children's Hospital of Fudan University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 8, 2016

Primary Completion (Estimated)

December 30, 2026

Study Completion (Estimated)

December 30, 2026

Study Registration Dates

First Submitted

December 2, 2018

First Submitted That Met QC Criteria

January 28, 2019

First Posted (Actual)

January 30, 2019

Study Record Updates

Last Update Posted (Actual)

September 21, 2023

Last Update Submitted That Met QC Criteria

September 19, 2023

Last Verified

September 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHFudanU_NNICU10

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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