Omics-based Precision Medicine of Epilepsy

Omics-based Precision Medicine of Epilepsy Being Entrusted by Key Research Project of the Ministry of Science and Technology of China

Epilepsy is a major disease of the nervous system (WHO, 2015), as well as the second most common neural disease. It has been recorded that there have been 65 million epilepsy patients all over the world, more than 10 million in China, resulted in high morbidity, high mortality, heavy social and social psychological burden. Due to complex etiology, which genetic playing a large part for 70%-80%, easy to recurrent, as well as various seizure types, a great heterogeneity in clinical manifestation, epilepsy is difficult to treat in general, at least 33% patients. At present, It's still a big challenge in early warning, choice of treatment, efficacy and severe adverse reaction rate, prognosis assessment. Lack of precise diagnosis based genetic and molecular bio-markers for treatment are the main key points. Recently, clinical phenotype classifications of epilepsy have been refined, the exist researches had made a progress in gene mutation mechanism and targeted therapy, which pushed epilepsy being another disease could be precise treated after tumor. It's sure to provide a breakthrough for another neural diseases if epilepsy precise treatment project are successful.

Study Overview

• Status: Unknown
• Conditions: Gene Mutation; Epilepsy Idiopathic; Clinical Disease and/or Syndrome
• Intervention / Treatment: Other: non

Detailed Description

Research projects:

Part 1: Based on already existed large samples of epilepsy clinical cases, choose 2,0000 non-acquired epilepsy patients for clinical general phenotype and middle phenotype(EEG and MRI) data collection to further multi-dimensional standardization measure and evaluate. Through metabolic detection to define micro-phenotype. Establish a standardized clinical and biological samples database.

Part 2: By NGS technology to sequence for all cases, including family members, then require genotype. To test brain tissue DNA somatic mutation, which MRI negative and had an operation. To verify the newly discovered pathogenic candidate genes and carry on functional studies. Finally, to draw epileptic genetic mutations mapping in Chinese people.

Part 3: Integrated clinical and genetic epilepsy phenotypic data, combined with neural EEG and image bitmap data points for bio-markers analysis, included early warning, classification of diagnosis, curative effect prediction and epilepsy con-morbidity disease.

• Study Type: Observational
• Enrollment (Anticipated): 10000

Contacts and Locations

Study Locations

• China
  • Shanghai
    • Shanghai, Shanghai, China, 201102
      • Recruiting
      • Children's Hospital of Fudan University
      • Contact: Wang yi, Dr; Phone Number: 86+13564766228; Email: yiwang@shmu.edu.cn

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 65 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Probability Sample

Study Population

15000 children and adolescent patients; 5000 adult patients

Description

Inclusion Criteria:

• non-acquired epilepsy; family involved(children, father and mother); Han nationality; Consent and will to follow up

Exclusion Criteria:

• Acquired epilepsy; Very low birth weight infant

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
EP; For diagnosis non-acquired epilepsy;	Other: non; non

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
The important bio-markers for the efficient therapy and prognosis	the gene mutation or chromosome missing or duplication	2017.02-2018.07

Collaborators and Investigators

• Sponsor: Fudan University
• Collaborators: Peking University First Hospital; Xiangya Hospital of Central South University; Peking University People's Hospital; Huashan Hospital; Xuanwu Hospital, Beijing; Capital Medical University; Second Affiliated Hospital of Guangzhou Medical University; First Affiliated Hospital of Chongqing Medical University; Children's Hospital of Chongqing Medical University
• Investigators: Principal Investigator: Wang yi, Dr, Leader

Publications and helpful links

General Publications

• EpiPM Consortium. A roadmap for precision medicine in the epilepsies. Lancet Neurol. 2015 Dec;14(12):1219-28. doi: 10.1016/S1474-4422(15)00199-4. Epub 2015 Sep 20. Erratum In: Lancet Neurol. 2016 Mar;15(3):241.

Study record dates

Study Major Dates

• Study Start (Actual): November 25, 2017
• Primary Completion (Actual): November 26, 2017
• Study Completion (Anticipated): July 1, 2018

Study Registration Dates

• First Submitted: November 26, 2017
• First Submitted That Met QC Criteria: November 29, 2017
• First Posted (Actual): November 30, 2017

Study Record Updates

• Last Update Posted (Actual): November 30, 2017
• Last Update Submitted That Met QC Criteria: November 29, 2017
• Last Verified: November 1, 2017

More Information

Terms related to this study

• Keywords: phenotype; genotype
• Additional Relevant MeSH Terms: Pathologic Processes; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Epilepsy; Disease
• Other Study ID Numbers: 2016YFC0904400(1)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: epilepsy patients with genotype and phenotype can be shared with other collaborators

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No