今天是:2021-07-24 星期六

Wilson病基因诊断
下载XML文档

注册号:

Registration number:

ChiCTR-DDD-17010552 

最近更新日期:

Date of Last Refreshed on:

2017-02-04 

注册时间:

Date of Registration:

2017-02-04 

注册号状态:

预注册  

Registration Status:

Prospective registration  

注册题目:

Wilson病基因诊断  

Public title:

Genetic diagnosis of Wilson's disease 

注册题目简写:

 

English Acronym:

 

研究课题的正式科学名称:

Wilson病基因诊断 

Scientific title:

Genetic diagnosis of Wilson's disease 

研究课题代号(代码):

Study subject ID:

1604a0802070 

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:

吴丽敏 

研究负责人:

吴丽敏 

Applicant:

Limin WU 

Study leader:

Limin WU 

申请注册联系人电话:

Applicant telephone:

+86 13605601977 

研究负责人电话:

Study leader's telephone:

+86 13605601977 

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:

wuliminmail@126.com 

研究负责人电子邮件:

Study leader's E-mail:

wuliminmail@126.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:

安徽省合肥市庐江路17号 

研究负责人通讯地址:

安徽省合肥市庐江路17号 

Applicant address:

17 Lujiang Road, Hefei, Anhui, China 

Study leader's address:

17 Lujiang Road, Hefei, Anhui, China 

申请注册联系人邮政编码:

Applicant postcode:

230001 

研究负责人邮政编码:

Study leader's postcode:

230001 

申请人所在单位:

安徽省立医院生殖与产前诊断中心 

Applicant's institution:

Center for Reproductive Medicine and Prenatal Diagnosis, Anhui Provincial Hospital affiliated to Anhui Medical University 

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:

2014030311 

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:

安徽中医药大学第一附属医院医院医学伦理委员会  

Name of the ethic committee:

Medical ethics committee of First Teaching Hospital Of Anhui University Of Traditional Chinese Medicine  

伦理委员会批准日期:

Date of approved by ethic committee:

 

伦理委员会联系人:

 

Contact Name of the ethic committee:

 

伦理委员会联系地址:

 

Contact Address of the ethic committee:

 

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:

安徽省立医院 

Primary sponsor:

Anhui Provincial Hospital 

研究实施负责(组长)单位地址:

安徽省合肥市庐江路17号 

Primary sponsor's address:

17 Lujiang Road, Hefei, Anhui, 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):

安徽省

市(区县):

合肥市

Country:

China

Province:

Anhui

City:

单位(医院):

安徽省立医院

具体地址:

安徽省合肥市庐江路17号

Institution
hospital:

Anhui Provincial Hospital

Address:

17 Lujiang Road, Hefei, Anhui, China

经费或物资来源:

安徽省科技攻关项目 

Source(s) of funding:

Science and technology research project of Anhui Province  

研究疾病:

Wilson病 

Target disease:

Wilson Disease 

研究疾病代码:

 

Target disease code:

 

研究类型:

诊断试验 

Study type:

Diagnostic test 

研究所处阶段:

诊断试验新技术临床试验 

Study phase:

Diagnostic New Technique Clincal Study 

研究目的:

验证WD基因测序诊断新技术的准确性 

Objectives of Study:

Validating the accuracy of Wilson disease's gene sequencing diagnosis 

药物成份或治疗方案详述:

 

Description for medicine or protocol of treatment in detail:

 

研究设计:

诊断试验诊断准确性 

Study design:

Diagnostic test for accuracy 

纳入标准:

临床症状和铜代谢检测确诊的病例 

Inclusion criteria

Diagnosed cases of clinical symptoms and copper metabolism 

排除标准:

诊断不明确的病例 

Exclusion criteria:

Cases of diagnosis is not clear  

研究实施时间:

Study execute time:

From2017-01-25To 2018-12-30 

征募观察对象时间:

Recruiting time:

From2017-01-25To 2018-12-30 

诊断试验:

Diagnostic Tests:

金标准或参考标准(即可准确诊断某疾病的单项方法或多项联合方法,在本研究中用于诊断是否有该病的临床参考标准):

临床症状;家族遗传史;血浆铜蓝蛋白水平;24小时尿铜含量;神经系统的评估和头颅影像学检查;

Gold Standard or Reference Standard (The clinical reference standards required to establish the presence or absence of the target condition in the tested population in present study):

Clinical symptoms; Family history of genetic; Plasma ceruloplasmin levels;Urine copper levels of 24 hours; The nervous system of assessment and head imaging examination

指标试验(即本研究的待评估诊断试验,无论为方法、生物标志物或设备,均请列出名称):

基因序列测定: ATP7B基因

Index test:

Determination of gene sequence of the gene of ATP7B

目标人群(可以是某种疾病患者或正常人群,详细描述其疾病特征,注意应纳入符合分布特点的全序列病例,具有良好的代表性)

Wilson病患者

例数:

Sample size:

20

Target condition (The target condition is a particular disease or disease stage that the index test will be intended to identify. Please specify the characteristics in detail; the population should has a complete spectrum and good representative):

Patients with Wilson disease

容易混淆的疾病人群(即与目标疾病不易区分的一种或多种不同疾病,应避免采用正常人群对照的病例-对照设计):

例数:

Sample size:

0

Population with condition difficult to distinguish from the target condition, the normal population in a case-control study design should be avoid:

研究实施地点:

Countries of recruitment and research settings:

国家:

中国 

省(直辖市):

安徽省 

市(区县):

 

Country:

China 

Province:

Anhui 

City:

 

单位(医院):

安徽省立医院 

单位级别:

三级甲等医院 

Institution
hospital:

Anhui Provincial Hospital  

Level of the institution:

Tertiary A hospital  

国家:

中国 

省(直辖市):

安徽省 

市(区县):

 

Country:

China 

Province:

Anhui 

City:

 

单位(医院):

安徽中医药大学第一附属医院 

单位级别:

三级甲等医院 

Institution
hospital:

First Teaching Hospital Of Anhui University Of Traditional Chinese Medicine  

Level of the institution:

Tertiary A hospital 

测量指标:

Outcomes:

指标中文名:

临床妊娠结局

指标类型:

主要指标 

Outcome:

pregnancy outcome

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:

血液

组织:

Sample Name:

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:

正在进行

Recruiting

年龄范围:

Participant age:

最小 Min age years
最大 Max age 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):

NA

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

NA

盲法:

Blinding:

试验完成后的统计结果(上传文件):

Calculated Results after
the Study Completed(upload file):

是否共享原始数据:

IPD sharing

否No

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):

安徽省立医院

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

Anhui Provincial Hospital

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:

PACS 系统, 光盘,移动硬盘

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

PACS system, CD, mobile hard disk

数据管理委员会:

Data Managemen Committee:

暂未确定/Not yet

注册人:

Name of Registration:

 2017-02-04
返回列表