Today is 2019-12-12

Open, multicentre study for the diagnosis of Lynch syndrome using foss sequencing platform in colorectal cancer patients with immunohistochemical indications of MMR protein deficiency
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注册号:

Registration number:

ChiCTR1900027623 

最近更新日期:

Date of Last Refreshed on:

2019-11-22 

注册时间:

Date of Registration:

2019-11-22 

注册号状态:

预注册  

Registration Status:

Prospective registration  

注册题目:

在免疫组化提示 MMR 蛋白表达缺失的结直肠癌患者中使用燃石新凯康测序平台诊断 Lynch 综合征的开放性、多中心研究 

Public title:

Open, multicentre study for the diagnosis of Lynch syndrome using foss sequencing platform in colorectal cancer patients with immunohistochemical indications of MMR protein deficiency 

注册题目简写:

 

English Acronym:

 

研究课题的正式科学名称:

在免疫组化提示 MMR 蛋白表达缺失的结直肠癌患者中使用燃石新凯康测序平台诊断 Lynch 综合征的开放性研究 

Scientific title:

An open study for the diagnosis of Lynch syndrome using the fosslicam sequencing platform in colorectal cancer patients with immunohistochemical indications of MMR protein deficiency 

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:

冯洁 

研究负责人:

吴保平 

Applicant:

Jie feng 

Study leader:

Baoping wu 

申请注册联系人电话:

Applicant telephone:

+86 18819204382 

研究负责人电话:

Study leader's telephone:

+86 13556197081 

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:

930213969@qq.com 

研究负责人电子邮件:

Study leader's E-mail:

bpwu@263.net 

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:

广东省广州市广州大道北1838号 

研究负责人通讯地址:

广东省广州市广州大道北1838号 

Applicant address:

1838 North Guangzhou Avenue, Guangzhou, Guangdong, China 

Study leader's address:

1838 North Guangzhou Avenue, Guangzhou, Guangdong, 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:

广东省广州市南方医科大学 

Applicant's institution:

Southern 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:

NFEC-2017-061 

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:

南方医科大学南方医院医学伦理委员会 

Name of the ethic committee:

Medical ethics committee of Nanfang Hospital of Southern Medical University 

伦理委员会批准日期:

Date of approved by ethic committee:

2017-05-08 

伦理委员会联系人:

张训 

Contact Name of the ethic committee:

Xun Zhang 

伦理委员会联系地址:

广东省广州市广州大道北1838号南方医科大学南方医院 

Contact Address of the ethic committee:

Nanfang Hospital of Southern Medical University, 1838 North Guangzhou Avenue, Guangzhou, Guangdong, 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:

南方医科大学南方医院消化内科 

Primary sponsor:

Digestive System Department, Nanfang Hospital of Southern Medical University 

研究实施负责(组长)单位地址:

广东省广州市广州大道北1838号 

Primary sponsor's address:

1838 North Guangzhou Avenue, Guangzhou, Guangdong, China 

试验主办单位(项目批准或申办者):

Secondary sponsor:

经费或物资来源:

临床研究专项拨款 

Source(s) of funding:

Clinical research earmarks 

研究疾病:

结直肠癌 

Target disease:

colorectal cancer 

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:

探索性研究/预试验 

Study phase:

研究目的:

对于 IHC 检测发现 MMR 蛋白表达缺失的结直肠癌患者,使用新凯康 panel 检测 遗传相关基因胚系突变情况;对于发现结直肠癌遗传相关基因胚系突变(病理性/疑似病理性)的血缘亲属,进行家系验证,以便观察该基因在家系中与疾病相关联的分离情况,确立其遗传性。从而,分析 IHC 提示 MMR 蛋白缺失的人群中最终确诊为 Lynch 综合征的比例;分析 IHC 提示 MMR 蛋白缺失的人群中确诊为其他遗传性肿瘤的比例。 

Objectives of Study:

For colorectal cancer patients with missing MMR protein expression detected by IHC test, new caicon panel was used for detection Germline mutation of related genes;Pedigree verification was performed for blood relatives who found germline mutations (pathological/suspected pathological) of genes related to colorectal cancer inheritance, in order to observe the separation of the gene associated with the disease in the family and establish its heritability.Thus, the IHC indicated the proportion of people with MMR protein deficiency who were eventually diagnosed with Lynch syndrome.Analysis of IHC indicated the percentage of patients with MMR protein deficiency diagnosed with other hereditary tumors. 

药物成份或治疗方案详述:

 

Description for medicine or protocol of treatment in detail:

 

研究设计:

连续入组 

Study design:

Sequential 

纳入标准:

受试者入选标准,同时满足以下几点: 1)组织学确诊为结直肠癌的患者; 2)经治医院病理科 IHC 检测并复核后提示有任一 MMR 蛋白(MLH1、MSH2、MSH6、PMS2)表达缺失; 3)有足够符合送检要求的肿瘤组织和正常组织(癌旁正常组织/外周全血)样本 (详见下文“4.样本采集”); 4)同意提供基本信息、临床信息及肿瘤家族史信息。 

Inclusion criteria

The inclusion criteria of the subjects are as follows: 1) patients with histologically diagnosed colorectal cancer; 2) any MMR protein (MLH1, MSH2, MSH6, PMS2) lack of expression; 3) sufficient samples of tumor tissues and normal tissues (adjacent normal tissues/peripheral blood) meeting the requirements for examination (see "4. Sample collection" below); 4) agree to provide basic information, clinical information and family tumor history information. 

排除标准:

1)已有血缘亲属有明确的遗传相关基因胚系突变; 4.1.3 受试者退出标准,满足以下任一条: 1)样本因过少或其他原因未能检测成功,并且无法或拒绝再次提供样本; 2)样本已进行检测的原则上不能退出,若本人因强烈意愿要求退出,则予以退出。 4.2 家系验证血缘亲属入选、排除和退出标准  

Exclusion criteria:

1) genetic mutations of related genes have been clearly inherited by blood relatives; 4.1.3 subject withdrawal criteria: 1) the sample cannot be tested successfully due to too little or other reasons, and the sample cannot be provided or refused again; 2) in principle, the sample that has been tested cannot be withdrawn. If I want to withdraw due to my strong will, I will withdraw. 4.2 criteria for inclusion, exclusion and withdrawal of blood relatives in pedigree verification 

研究实施时间:

Study execute time:

From2019-12-01To 2023-12-31 

诊断措施:

Diagnostic measures:

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):

病理检查

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):

Pathological 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):

新凯康panel测序

Index test:

New Caicon Panel

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)

结直肠癌患者

例数:

Sample size:

1000

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):

Colorectal cancer patients

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):

广东省 

市(区县):

广州市 

Country:

China 

Province:

Guangdong 

City:

Guangzhou 

单位(医院):

南方医院 

单位级别:

三级甲等 

Institution
hospital:

Nanfang hospital  

Level of the institution:

Tertiary A Hospital 

测量指标:

Outcomes:

指标中文名:

新凯康panel测序

指标类型:

主要指标 

Outcome:

New caicon panel sequencing

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:

肿物

组织:

结直肠

Sample Name:

goitre

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 18 years
最大 Max age 65 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:

未说明

Blinding:

Not stated

试验完成后的统计结果(上传文件):

点击下载

Calculated Results ater
the Study Completed(upload file):

download

原始数据公开时间:

The time of sharing IPD:

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):

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

No

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:

有关受试者身份的所有记录均予以保密,并且在相关法律和/或法规允许的范围之外这些资料不对外公开。并与广州燃石医学检验所有限公司签订保密协议

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

All records relating to the subject's identity will be kept confidential and to the extent permitted by applicable laws and/or regulations The information is closed to the public.And signed a confidentiality agreement with guangzhou burnstone medical laboratory co., LTD

数据管理委员会:

Data Managemen Committee:

有/Yes

注册人:

Name of Registration:

 2019-11-22
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