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Omics-based Precision Medicine of Epilepsy

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ClinicalTrials.gov Identifier: NCT03358459
Recruitment Status : Recruiting
First Posted : November 30, 2017
Last Update Posted : November 30, 2017
Information provided by (Responsible Party):

Study Description
Brief Summary:
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.

Condition or disease Intervention/treatment
Epilepsy Idiopathic Clinical Disease and/or Syndrome Gene Mutation 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 Design

Study Type : Observational
Estimated Enrollment : 10000 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Omics-based Precision Medicine of Epilepsy Being Entrusted by Key Research Project of the Ministry of Science and Technology of China
Actual Study Start Date : November 25, 2017
Primary Completion Date : November 26, 2017
Estimated Study Completion Date : July 1, 2018

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Epilepsy
U.S. FDA Resources

Groups and Cohorts

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

Outcome Measures

Primary Outcome Measures :
  1. The important bio-markers for the efficient therapy and prognosis [ Time Frame: 2017.02-2018.07 ]
    the gene mutation or chromosome missing or duplication

Biospecimen Retention:   Samples With DNA
serum 2 ml ; whole blood 3 ml;

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 65 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
15000 children and adolescent patients; 5000 adult patients

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
Contacts and Locations

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03358459

Contact: Wang yi, Dr +8613564766228 yiwang@shmu.edu.cn
Contact: Long Shasha, Dr +8615721029985 longshasha9985@sina.com

China, Shanghai
Children's Hospital of Fudan University Recruiting
Shanghai, Shanghai, China, 201102
Contact: Wang yi, Dr    86+13564766228    yiwang@shmu.edu.cn   
Sponsors and Collaborators
Fudan University
Huashan Hospital
Peking University First Hospital
Peking University People's Hospital
Xiangya Hospital of Central South University
First Affiliated Hospital of Chongqing Medical University
Children's Hospital of Chongqing Medical University
Xuanwu Hospital, Beijing
Sanbo Brain Hospital Capital Medical University
Second Affiliated Hospital of Guangzhou Medical University
Principal Investigator: Wang yi, Dr leader
More Information

Responsible Party: Yi Wang, vice prsident, Fudan University
ClinicalTrials.gov Identifier: NCT03358459     History of Changes
Other Study ID Numbers: 2016YFC0904400(1)
First Posted: November 30, 2017    Key Record Dates
Last Update Posted: November 30, 2017
Last Verified: November 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Undecided
Plan Description: epilepsy patients with genotype and phenotype can be shared with other collaborators

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Yi Wang, Fudan University:
phenotype; genotype

Additional relevant MeSH terms:
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Pathologic Processes