Omics-based Precision Medicine of Epilepsy

Gene Mutation Clinical Trial

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT03358459
• Other study ID #: 2016YFC0904400(1)
• Status: Recruiting
• Phase: N/A
• First received: November 26, 2017
• Last updated: November 29, 2017
• Start date: November 25, 2017
• Est. completion date: July 1, 2018

Study information

• Verified date: November 2017
• Source: Fudan University
• Contact: Wang yi, Dr
• Phone: +8613564766228
• Email: yiwang[@]shmu.edu.cn
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 10000
• Est. completion date: July 1, 2018
• Est. primary completion date: November 26, 2017
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A to 65 Years

Eligibility

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

Related Conditions & MeSH terms

• Clinical Disease and/or Syndrome
• Disease
• Epilepsy
• Epilepsy Idiopathic
• Gene Mutation

Intervention

Other:
• non
non

Locations

Country	Name	City	State
China	Children's Hospital of Fudan University	Shanghai	Shanghai

Sponsors (10)

Lead Sponsor	Collaborator
Fudan University	Children's Hospital of Chongqing Medical University, First Affiliated Hospital of Chongqing Medical University, Huashan Hospital, Peking University First Hospital, Peking University People's Hospital, Sanbo Brain Hospital Capital Medical University, Second Affiliated Hospital of Guangzhou Medical University, Xiangya Hospital of Central South University, Xuanwu Hospital, Beijing

Country where clinical trial is conducted

China, 

References & Publications (1)

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. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	The important bio-markers for the efficient therapy and prognosis	the gene mutation or chromosome missing or duplication	2017.02-2018.07