【ChiCTR2100053642】Mapping the Thyroid Associated Orbitopathy (TAO) Genes by Whole Genome Sequencing (WGS)

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基本信息

登记号

ChiCTR2100053642

试验状态

正在进行

药物名称

药物类型

规范名称

首次公示信息日的期

2021-11-26

临床申请受理号

靶点

适应症

Thyroid associated orbitopathy

试验通俗题目

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

试验专业题目

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

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临床试验信息

试验目的

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.

试验分类

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试验类型

析因分组（即根据危险因素或暴露因素分组）

试验分期

其它

随机化

N/A

盲法

N/A

试验项目经费来源

Research Grants Council - General Research Fund 2021/22

试验范围

目标入组人数

1000

实际入组人数

第一例入组时间

2022-01-01

试验终止时间

2024-12-31

是否属于一致性

入选标准

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).；

排除标准

Healthy controls: aged < 60 years；

研究者信息

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试验机构

Research Grants Council

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