ChiCTR2100053642 版本V1.2 版本创建时间2022/10/16 15:11:30 中国临床试验注册中心

审核状态：

Project audit state：

通过审核

Successful

注册号：

Registration number：

ChiCTR2100053642 

最近更新日期：

Date of Last Refreshed on：

2022-10-16 15:10:41 

注册时间：

Date of Registration：

2021-11-26 00:00:00 

注册号状态：

预注册

Registration Status：

Prospective registration

注册题目：

Mapping the Thyroid Associated Orbitopathy (TAO) Genes by Whole Genome Sequencing (WGS)

Public title：

Mapping the Thyroid Associated Orbitopathy (TAO) Genes by Whole Genome Sequencing (WGS)

注册题目简写：

English Acronym：

研究课题的正式科学名称：

Mapping the Thyroid Associated Orbitopathy (TAO) Genes by Whole Genome Sequencing (WGS)

Scientific title：

Mapping the Thyroid Associated Orbitopathy (TAO) Genes by Whole Genome Sequencing (WGS)

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：

Jennifer Tsoi 

研究负责人：

Prof Pang Chi Pui Calvin 

Applicant：

Jennifer Tsoi 

Study leader：

Prof Pang Chi Pui Calvin 

申请注册联系人电话：

Applicant telephone：

+852 39435818

研究负责人电话：

Study leader's telephone：

+852 39435801

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：

jennifertsoi@cuhk.edu.hk

研究负责人电子邮件：

Study leader's E-mail：

cppang@cuhk.edu.hk

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：

3/F, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong, China

研究负责人通讯地址：

4/F, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong, China

Applicant address：

3/F, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong, China

Study leader's address：

4/F, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong, 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：

香港中文大學眼科與視覺科學系

Applicant's institution：

Department of Ophthalmology and Visual Sciences, CUHK

研究负责人所在单位：

香港中文大學眼科與視覺科學系

Affiliation of the Leader：

Department of Ophthalmology and Visual Sciences, CUHK

是否获伦理委员会批准：

是/Yes

Approved by ethic committee：

Yes

伦理委员会批件文号：

Approved No. of ethic committee：

2021.473

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：

香港中文大學-新界東醫院聯網臨床研究倫理聯席委員會

Name of the ethic committee：

Joint Chinese University of Hong Kong – New Territories East Cluster Clinical Research Ethics Committee

伦理委员会批准日期：

Date of approved by ethic committee：

2021-10-21 00:00:00

伦理委员会联系人：

Ms Envy Lee

Contact Name of the ethic committee：

Ms Envy Lee

伦理委员会联系地址：

中國香港特別行政區新界沙田銀城街威爾士親王醫院呂志和臨床醫學大樓8樓

Contact Address of the ethic committee：

8/F, Lui Che Woo Clinical Sciences Building, Prince of Wales Hospital, Shatin, Hong Kong, 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：

Research Grants Council

Primary sponsor：

Research Grants Council

研究实施负责（组长）单位地址：

7/F, Shui On Centre, 6-8 Harbour Road, Wanchai, Hong Kong, China

Primary sponsor's address：

7/F, Shui On Centre, 6-8 Harbour Road, Wanchai, Hong Kong, China

试验主办单位(项目批准或申办者)：

Secondary sponsor：

国家：

中國

省(直辖市)：

香港特別行政區

市(区县)：

Country：

China

Province：

Hong Kong SAR

City：

单位(医院)：

Department of Ophthalmology and Visual Sciences, CUHK

具体地址：

4/F, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong

Institution
hospital：

Department of Ophthalmology and Visual Sciences, CUHK

Address：

4/F, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong

经费或物资来源：

Research Grants Council - General Research Fund 2021/22

Source(s) of funding：

Research Grants Council - General Research Fund 2021/22

Target disease：

Thyroid associated orbitopathy

Target disease code：

研究类型：

观察性研究

Study type：

Observational study

研究所处阶段：

 其它 

Study phase：

N/A

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 

研究目的：

1. To document and update the clinical course and family history of the cohort of Thyroid Associated Orbitopathy (TAO) patients in Hong Kong. 2. To identify gene loci and variants that are associated with TAO by Whole Genome Sequencing (WGS) and family linkage analysis. 3. To study the expressions and functions of the newly found TAO genes. 4. To associate the phenotypic features of TAO patients with the newly identified TAO gene variants.  

Objectives of Study：

1. To document and update the clinical course and family history of the cohort of Thyroid Associated Orbitopathy (TAO) patients in Hong Kong. 2. To identify gene loci and variants that are associated with TAO by Whole Genome Sequencing (WGS) and family linkage analysis. 3. To study the expressions and functions of the newly found TAO genes. 4. To associate the phenotypic features of TAO patients with the newly identified TAO gene variants.

药物成份或治疗方案详述：

 

Description for medicine or protocol of treatment in detail：

 

纳入标准：

All TAO patients were diagnosed by the endocrinologists and orbital surgeons experienced in thyroid diseases. Diagnosis of GD is based on history, complete physical/ophthalmic examination and laboratory tests (sensitive TSH, free T4, total T3 and anti-thyroglobulin antibody), diffuse goiter, and the presence of at least one of the following: positive TRAb tests, diffusely increased 131I uptake in the thyroid gland or exophthalmos. Diagnosis of TAO is made according to the EUGOGO criteria. TAO is defined as class 3 or higher in the American Thyroid Association mnemonic NOSPECS scheme:
The NOSPECS classification system:
Class 0: No signs or symptoms
Class 1: Only signs (limited to upper lid retraction and stare, with or without lid lag)
Class 2: Soft tissue involvement (edema and redness of conjunctivae and lids)
Class 3: Proptosis
Class 4: Extraocular muscle involvement (usually with diplopia)
Class 5: Corneal involvement (primarily due to lagophthalmos)
Class 6: Sight loss (due to optic nerve involvement)

All control subjects are healthy without personal or family history of Graves disease, TAO, other eye diseases, syndromic diseases, or autoimmune disorders. They are matched for sex with cases and are over 60 years to reduce the number of controls who might develop thyroid eye diseases later in life as thyroid eye diseases are more likely to occur in young adults. Sensitive TSH (sTSH) (<0.35 mU/ml) and TPOAb (>5.61 U/ml) in control subjects are measured using chemiluminescence immunoassay (CLIA).

Inclusion criteria

All TAO patients were diagnosed by the endocrinologists and orbital surgeons experienced in thyroid diseases. Diagnosis of GD is based on history, complete physical/ophthalmic examination and laboratory tests (sensitive TSH, free T4, total T3 and anti-thyroglobulin antibody), diffuse goiter, and the presence of at least one of the following: positive TRAb tests, diffusely increased 131I uptake in the thyroid gland or exophthalmos. Diagnosis of TAO is made according to the EUGOGO criteria. TAO is defined as class 3 or higher in the American Thyroid Association mnemonic NOSPECS scheme:
The NOSPECS classification system:
Class 0: No signs or symptoms
Class 1: Only signs (limited to upper lid retraction and stare, with or without lid lag)
Class 2: Soft tissue involvement (edema and redness of conjunctivae and lids)
Class 3: Proptosis
Class 4: Extraocular muscle involvement (usually with diplopia)
Class 5: Corneal involvement (primarily due to lagophthalmos)
Class 6: Sight loss (due to optic nerve involvement)

All control subjects are healthy without personal or family history of Graves disease, TAO, other eye diseases, syndromic diseases, or autoimmune disorders. They are matched for sex with cases and are over 60 years to reduce the number of controls who might develop thyroid eye diseases later in life as thyroid eye diseases are more likely to occur in young adults. Sensitive TSH (sTSH) (<0.35 mU/ml) and TPOAb (>5.61 U/ml) in control subjects are measured using chemiluminescence immunoassay (CLIA).

排除标准：

Healthy controls: aged < 60 years

Exclusion criteria：

Healthy controls: aged < 60 years

研究实施时间：

Study execute time：

从 From 2022-01-01 00:00:00至 To 2024-12-31 00:00:00  

征募观察对象时间：

Recruiting time：

从From 2022-01-01 00:00:00 至 To 2024-12-31 00:00:00  

干预措施：

Interventions：

组别：

TAO patients

样本量：

1000

Group：

TAO patients

Sample size：

干预措施：

Blood taking and data collection

干预措施代码：

Intervention：

Blood taking and data collection

Intervention code：

组别：

TAO family members

样本量：

1000

Group：

TAO family members

Sample size：

干预措施：

Blood taking and data collection

干预措施代码：

Intervention：

Blood taking and data collection

Intervention code：

组别：

Healthy controls

样本量：

1000

Group：

Healthy controls

Sample size：

干预措施：

Blood taking

干预措施代码：

Intervention：

Blood taking

Intervention code：

研究实施地点：

Countries of recruitment and research settings：

国家：

 中國

省(直辖市)：

 香港特別行政區 

市(区县)：

  

Country：

China 

Province：

Hong Kong SAR 

City：

 

单位(医院)：

威爾士親王醫院 

单位级别：

三级医院 

Institution
hospital：

Prince of Wales Hospital

Level of the institution：

Tertiary

国家：

 中國

省(直辖市)：

 香港特別行政區 

市(区县)：

  

Country：

China 

Province：

Hong Kong SAR 

City：

 

单位(医院)：

香港中文大學眼科中心 

单位级别：

三级医院 

Institution
hospital：

CUHK Eye Centre

Level of the institution：

Tertiary

测量指标：

Outcomes：

指标中文名：

Clinical course and family history of the cohort of Thyroid Associated Orbitopathy (TAO) patients in Hong Kong

指标类型：

主要指标

Outcome：

Clinical course and family history of the cohort of Thyroid Associated Orbitopathy (TAO) patients in Hong Kong

Type：

Primary indicator

测量时间点：

测量方法：

Measure time point of outcome：

Measure method：

指标中文名：

Gene loci and variants that are associated with TAO by Whole Genome Sequencing (WGS) and family linkage analysis

指标类型：

主要指标

Outcome：

Gene loci and variants that are associated with TAO by Whole Genome Sequencing (WGS) and family linkage analysis

Type：

Primary indicator

测量时间点：

测量方法：

Measure time point of outcome：

Measure method：

指标中文名：

Expressions and functions of the newly found TAO genes

指标类型：

次要指标

Outcome：

Expressions and functions of the newly found TAO genes

Type：

Secondary indicator

测量时间点：

测量方法：

Measure time point of outcome：

Measure method：

指标中文名：

Correlation between clinical features of TAO patients and the newly identified TAO gene variants

指标类型：

次要指标

Outcome：

Correlation between clinical features of TAO patients and the newly identified TAO gene variants

Type：

Secondary 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：

Blood

组织：

Sample Name：

Blood

Tissue：

人体标本去向

 使用后保存  

说明

Fate of sample：

Preservation 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 岁 years
最大 Max age 岁 years

性别：

男性

Gender：

Male

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

是否公开试验完成后的统计结果:

Calculated Results after the Study Completed public access:

不公开/Private

盲法：

N/A

Blinding：

N/A

是否共享原始数据：

IPD sharing

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）：

Not stated

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

Not stated

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：

Patient data would be handled with utmost care taking care not to breach patient's privacy in any form. The data would be stored in secure cabinets and/or computers which would be password operated. To protect patient privacy, all research data would be handled in line with HA / Hospital’s policy in handling / storage / destruction of patients’ medical records. Electronic data would be saved in secured computer of the hospital with restricted access. USB Device would not be used for patient information nor personal data. Personal data (name, HKID, OPD / hospital numbers, address and any other personal identifiable information) would not be recorded on the project’s data sheets or electronic files. A study code would be used instead. The document of electronic file containing the linkage information between the study code and the identity of the patient would not contain any other information and would be kept separate from the study data files or data sheets with the same stringent security as the medical record. Any documents or electronic files containing personal identifiable information would be considered as part of the medical record and would be dealt with the same stringent regulations of security according to the hospital policies. All the investigators would be responsible for data handling and protection.

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

Patient data would be handled with utmost care taking care not to breach patient's privacy in any form. The data would be stored in secure cabinets and/or computers which would be password operated. To protect patient privacy, all research data would be handled in line with HA / Hospital’s policy in handling / storage / destruction of patients’ medical records. Electronic data would be saved in secured computer of the hospital with restricted access. USB Device would not be used for patient information nor personal data. Personal data (name, HKID, OPD / hospital numbers, address and any other personal identifiable information) would not be recorded on the project’s data sheets or electronic files. A study code would be used instead. The document of electronic file containing the linkage information between the study code and the identity of the patient would not contain any other information and would be kept separate from the study data files or data sheets with the same stringent security as the medical record. Any documents or electronic files containing personal identifiable information would be considered as part of the medical record and would be dealt with the same stringent regulations of security according to the hospital policies. All the investigators would be responsible for data handling and protection.

数据与安全监察委员会：

Data and Safety Monitoring Committee：

有/Yes

注册人：

Name of Registration：

  2021-11-26 07:32:51