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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):

November 26, 2017
November 30, 2017
November 30, 2017
November 25, 2017
November 26, 2017   (Final data collection date for primary outcome measure)
The important bio-markers for the efficient therapy and prognosis [ Time Frame: 2017.02-2018.07 ]
the gene mutation or chromosome missing or duplication
Same as current
No Changes Posted
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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.

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.

Observational Model: Case-Only
Time Perspective: Cross-Sectional
Not Provided
Retention:   Samples With DNA
serum 2 ml ; whole blood 3 ml;
Probability Sample
15000 children and adolescent patients; 5000 adult patients
  • Epilepsy Idiopathic
  • Clinical Disease and/or Syndrome
  • Gene Mutation
Other: non
For diagnosis non-acquired epilepsy;
Intervention: Other: non
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. Review.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
July 1, 2018
November 26, 2017   (Final data collection date for primary outcome measure)

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
Sexes Eligible for Study: All
up to 65 Years   (Child, Adult)
Contact: Wang yi, Dr +8613564766228 yiwang@shmu.edu.cn
Contact: Long Shasha, Dr +8615721029985 longshasha9985@sina.com
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Plan to Share IPD: Undecided
Plan Description: epilepsy patients with genotype and phenotype can be shared with other collaborators
Yi Wang, Fudan University
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
Fudan University
November 2017