今天是:2020-08-05 星期三

全外显子测序应用于儿童遗传病的诊断中的研究
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注册号:

Registration number:

ChiCTR2000034358 

最近更新日期:

Date of Last Refreshed on:

2020-07-04 

注册时间:

Date of Registration:

2020-07-03 

注册号状态:

预注册  

Registration Status:

Prospective registration  

注册题目:

全外显子测序应用于儿童遗传病的诊断中的研究 

Public title:

Study on the application of whole exon sequencing in the diagnosis of genetic diseases in children 

注册题目简写:

 

English Acronym:

 

研究课题的正式科学名称:

全外显子测序应用于儿童遗传病的诊断中的研究 

Scientific title:

Study on the application of whole exon sequencing in the diagnosis of genetic diseases in children 

研究课题代号(代码):

Study subject ID:

 

在二级注册机构或其它机构的注册号:

The registration number of the Partner Registry or other register:

 

申请注册联系人:

余婷 

研究负责人:

何学莲 

Applicant:

Yu Ting 

Study leader:

He Xuelian 

申请注册联系人电话:

Applicant telephone:

+86 18064114779 

研究负责人电话:

Study leader's telephone:

+86 18971455713 

申请注册联系人传真 :

Applicant Fax:

 

研究负责人传真:

Study leader's fax:

 

申请注册联系人电子邮件:

Applicant E-mail:

tingyu324@whu.edu.cn 

研究负责人电子邮件:

Study leader's E-mail:

hexuelian2013@hotmail.com 

申请单位网址(自愿提供):

Applicant website(voluntary supply):

 

研究负责人网址(自愿提供):

Study leader's website(voluntary supply):

 

申请注册联系人通讯地址:

湖北省武汉市江岸区香港路100号 

研究负责人通讯地址:

湖北省武汉市江岸区香港路100号 

Applicant address:

100 Hongkong Road, Jiang'an District, Wuhan, Hubei, China 

Study leader's address:

100 Hongkong Road, Jiang'an District, Wuhan, Hubei, China 

申请注册联系人邮政编码:

Applicant postcode:

 

研究负责人邮政编码:

Study leader's postcode:

 

申请人所在单位:

武汉儿童医院 

Applicant's institution:

Wuhan children's Hospital 

是否获伦理委员会批准:

是 

Approved by ethic committee:

Yes 

伦理委员会批件文号:

Approved No. of ethic committee:

2020R006-F01 

伦理委员会批件附件:

Approved file of Ethical Committee:

查看附件View

批准本研究的伦理委员会名称:

武汉儿童医院医学伦理委员会 

Name of the ethic committee:

Medical ethics committee of wuhan children's hospital  

伦理委员会批准日期:

Date of approved by ethic committee:

2020-06-24 

伦理委员会联系人:

郑好 

Contact Name of the ethic committee:

Zheng Hao 

伦理委员会联系地址:

武汉儿童医院 

Contact Address of the ethic committee:

Wuhan Children's Hospital, 100 Hong Kong Road, Jiangan District, Wuhan, Hubei, China 

伦理委员会联系人电话:

Contact phone of the ethic committee:

 

伦理委员会联系人邮箱:

Contact email of the ethic committee:

 

研究实施负责(组长)单位:

武汉儿童医院 

Primary sponsor:

Wuhan Children's Hospital  

研究实施负责(组长)单位地址:

湖北省武汉市江岸区香港路100号 

Primary sponsor's address:

100 Hong Kong Road, Jiangan District, Wuhan, Hubei, China  

试验主办单位(项目批准或申办者):

Secondary sponsor:

国家:

中国

省(直辖市):

湖北省

市(区县):

武汉市

Country:

China

Province:

Hubei

City:

Wuhan

单位(医院):

武汉儿童医院

具体地址:

湖北省武汉市江岸区香港路100号

Institution
hospital:

Wuhan Children's Hospital

Address:

100 Hong Kong Road, Jiangan District, Wuhan, Hubei, China

经费或物资来源:

经费自筹 

Source(s) of funding:

Self-raised funds 

研究疾病:

儿童遗传病 

Target disease:

genetic diseases in children 

研究疾病代码:

 

Target disease code:

 

研究类型:

基础科学研究 

Study type:

Basic Science 

研究所处阶段:

探索性研究/预试验 

Study phase:

研究目的:

探讨儿童遗传病患儿的遗传学病基因,统计分析发育相关的基因明确的致病性改变在儿童遗传病中的比例,并探讨相关基因导致儿童遗传病的致病机制,为进一步推广WES在临床应用提供依据,避免出生缺陷。 

Objectives of Study:

To explore the genetic disease genes of children with hereditary diseases, to analyze the proportion of definite pathogenicity changes of genes related to development in children with hereditary diseases, and to explore the pathogenicity mechanism of genes related to genetic diseases in children, in order to further promote WES in clinical application to provide a basis to avoid birth defects. 

药物成份或治疗方案详述:

 

Description for medicine or protocol of treatment in detail:

 

研究设计:

析因分组(即根据危险因素或暴露因素分组) 

Study design:

Factorial 

纳入标准:

(1)存在智力障碍/生长发育迟缓; (2)具有异常面容; (3)伴有体表或内脏畸形,如先天性心脏病; (4)签订知情同意书。 

Inclusion criteria

1. Patients with mental retardation / growth retardation; 2. Patients with abnormal facial features; 3. Patients with surface or visceral abnormalities, such as congenital heart disease; 4. Patients with informed consent. 

排除标准:

产伤、出生后中枢神经系统感染或头颅损伤、 其他已知遗传综合征(如21三体综合征等)以及常见遗传代谢性疾病等, 以及不同意进行基因检测和失访的病例。 

Exclusion criteria:

1. Patients with birth injury, central nervous system infection or head injury after birth; 2. Patients with other known genetic syndromes (such as trisomy 21, etc.) and common genetic and metabolic diseases; 3. And those who do not agree to carry out genetic testing and lost follow-up. 

研究实施时间:

Study execute time:

From2020-07-01To 2022-06-30 

征募观察对象时间:

Recruiting time:

From2020-07-01To 2021-07-01 

干预措施:

Interventions:

组别:

神经系统畸形、骨骼畸 形、消化系统畸形、心血管系统、泌尿系统以及颅面畸形及对照组

样本量:

500

Group:

Nervous system malformation, skeletal malformation, digestive system malformation, cardiovascular system, urinary system, craniofacial malformation and control group

Sample size:

干预措施:

干预措施代码:

Intervention:

Nil

Intervention code:

研究实施地点:

Countries of recruitment and research settings:

国家:

中国 

省(直辖市):

湖北省 

市(区县):

武汉市 

Country:

China 

Province:

Hubei 

City:

Wuhan 

单位(医院):

武汉儿童医院 

单位级别:

三甲医院 

Institution
hospital:

Wuhan Children's Hospital  

Level of the institution:

Tertiary A Hospital 

测量指标:

Outcomes:

指标中文名:

全外显子测序

指标类型:

主要指标 

Outcome:

WES

Type:

Primary indicator 

测量时间点:

测量方法:

Measure time point of outcome:

Measure method:

采集人体标本:

Collecting sample(s)
from participants:

标本中文名:

外周血

组织:

Sample Name:

peripheral blood

Tissue:

人体标本去向

使用后销毁 

说明

Fate of sample:

Destruction after use 

Note:

征募研究对象情况:

Recruiting status:

尚未开始

Not yet recruiting

年龄范围:

Participant age:

最小 Min age 0 years
最大 Max age 18 years

性别:

男女均可

Gender:

Both

随机方法(请说明由何人用什么方法产生随机序列):

N/A

Randomization Procedure (please state who generates the random number sequence and by what method):

N/A

盲法:

N/A

Blinding:

N/A

试验完成后的统计结果(上传文件):

Calculated Results after
the Study Completed(upload file):

原始数据公开时间:

The time of sharing IPD:

试验完成后6个月内公开/Within six months after the trial complete

共享原始数据的方式(说明:请填入公开原始数据日期和方式,如采用网络平台,需填该网络平台名称和网址):

试验完成6个月内公开,向本单位伦理委员会提交

The way of sharing IPD”(include metadata and protocol, If use web-based public database, please provide the url):

After the completion of the experiment, it will be disclosed and submitted to the ethics committee of the unit within six months

数据采集和管理(说明:数据采集和管理由两部分组成,一为病例记录表(Case Record Form, CRF),二为电子采集和管理系统(Electronic Data Capture, EDC),如ResMan即为一种基于互联网的EDC:

本队列研究人员或志愿者采集,数据采取集中管理,保护研究对象隐私

Data collection and Management (A standard data collection and management system include a CRF and an electronic data capture:

Data are collected by researchers or volunteers in this cohort, and these data are centrally managed to protect the privacy of research subjects

数据管理委员会:

Data Managemen Committee:

有/Yes

注册人:

Name of Registration:

 2020-07-03
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