Genes, Proteins, and Metabolites in Drug-resistant Epilepsy (DRE) Patients

The Changes of Genes, Proteins, and Metabolites in Patients with Drug-resistant Epilepsy

In patients with drug-resistant epilepsy (DRE), there may be changes at the genetic, proteomic, and metabolomic levels when comparing epileptic tissues from DRE to normal tissues in traumatic brain injury (TBI). These changes could help in understanding the pathophysiological mechanisms of epilepsy and in identifying new therapeutic targets.

Study Overview

• Status: Not yet recruiting
• Conditions: Drug Resistant Epilepsy; Traumatic Brain Injury Without Open Intracranial Wound
• Intervention / Treatment: Other: Routine clinical treatment

Detailed Description

Genomical studies have identified changes in the expression of certain genes within epileptic tissues. These genes may be involved in pathways related to the balance of neuronal excitability and inhibition, synaptic transmission, and cell apoptosis.

Proteomic studies will reveal changes in the abundance and modifications of proteins in epileptic tissues. These could involve proteins related to the control of neuronal excitability and synaptic transmission, such as ion channels, neurotransmitter receptors, and synaptic proteins.

Metabolomic researches will reveal changes in metabolites within epileptic tissues. Epilepsy may lead to disruptions in metabolic pathways, affecting key processes such as energy metabolism, amino acid metabolism, and lipid metabolism.

Sample Size: There is no minimum or maximum, but is expected to be far less than 10.

In summary, patients with drug-resistant epilepsy might have changes in genes, proteomics, and metabolomics within epileptic tissues compared to normal tissue from TBI. Further research into these changes will deepen our understanding of the pathophysiology of epilepsy and guide the need for new treatment strategies.

• Study Type: Observational
• Enrollment (Estimated): 16

Contacts and Locations

• Study Contact: Name: Wenfeng Zhao, MD; Phone Number: 010-83198650; Email: fengfeng_zw@ccmu.edu.cn
• Study Contact Backup: Name: Xiaolei Liu, MD & PhD; Phone Number: 010-83198650; Email: ring@vip.163.com

Study Locations

• China
  • Beijing, China, 100053
    • Xuanwu Hospital, Capital Medical University
    • Contact: Hongxing Wang, MD & PhD; Phone Number: 010-83198650; Email: wanghongxing@xwh.ccmu.edu.cn

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Probability Sample

Study Population

Patients with drug-resistant epilepsy.

Description

Inclusion Criteria:

1. 14-60 years old, male or female, Han Chinese;
2. Drug-resistant epilepsy;
3. Required surgical implantation of SEEG electrodes.

Exclusion Criteria:

1. Progressive encephalopathy or progressive structural damage in the central nervous system;
2. Significant heart, liver, renal insufficiency, and other medical diseases;
3. Severe side effects from taking antiepileptic drugs at the time of enrollment and not inappropriate for SEEG;
4. Significant intellectual disability;
5. A history of alcohol and drug abuse;
6. Any contraindication to MRI.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
DRE patients; Patients with drug-resistant epilepsy.	Other: Routine clinical treatment; Routine clinical treatment is based on the latest international guidelines for DRE.
Traumatic Brain Injury; Individuals with traumatic brain injury.	Other: Routine clinical treatment; Routine clinical treatment is based on the latest international guidelines for DRE.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Single cell RNA sequencing	Cancerous and paracancerous tissues of patients will be subjected to10x Genomics single-cell RNA sequencing, Bulk RNA-seq and spatial transcriptome.	through study completion, an average of one year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Differentially expressed proteins	Discovering differentially expressed proteins (DEPs) and their roles in DRE patients, we will conduct 4D-DIA quantitative proteomics analysis.	through study completion, an average of one year
The concentration of metabolites	Metabolites of cancerous and paracancerous tissues in patients will be subjected to LC-MS/MS, GC-MS and Desorption Electrospray Ionization - Imaging Mass Spectrometry.	through study completion, an average of one year

Collaborators and Investigators

• Sponsor: Xuanwu Hospital, Beijing
• Investigators: Study Director: Hongxing Wang, MD & PhD, Xuanwu Hospital, Beijing; Principal Investigator: Guoguang Zhao, MD & PhD, Xuanwu Hospital, Beijing; Study Director: Yongzhi Shan, MD & PhD, Xuanwu Hospital, Beijing

Study record dates

Study Major Dates

• Study Start (Estimated): November 15, 2024
• Primary Completion (Estimated): December 15, 2025
• Study Completion (Estimated): December 31, 2026

Study Registration Dates

• First Submitted: August 5, 2024
• First Submitted That Met QC Criteria: October 28, 2024
• First Posted (Actual): October 30, 2024

Study Record Updates

• Last Update Posted (Actual): October 30, 2024
• Last Update Submitted That Met QC Criteria: October 28, 2024
• Last Verified: October 1, 2024

More Information

Terms related to this study

• Keywords: Metabolomics; Genomics; Proteomics; Traumatic Brain Injury; Drug Resistant Epilepsy
• Additional Relevant MeSH Terms: Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Wounds and Injuries; Craniocerebral Trauma; Trauma, Nervous System; Brain Injuries, Traumatic; Drug Resistant Epilepsy; Brain Injuries; Epilepsy
• Other Study ID Numbers: Brain Tissues

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No