ChiCTR2100053642招募中Unknown
Mapping the Thyroid Associated Orbitopathy (TAO) Genes by Whole Genome Sequencing (WGS)
Research Grants Council - General Research Fund 2021/222 个研究点 分布在 1 个国家目标入组 3,000 人开始时间: 2022年1月1日最近更新:
试验速览
- 阶段
- Unknown
- 状态
- 招募中
- 发起方
- 入组人数
- 3,000
- 试验地点
- 2
- 主要终点
- Clinical course and family history of the cohort of Thyroid Associated Orbitopathy (TAO) patients in Hong Kong
研究概览
简要总结
- To document and update the clinical course and family history of the cohort of Thyroid Associated Orbitopathy (TAO) patients in Hong Kong.
- To identify gene loci and variants that are associated with TAO by Whole Genome Sequencing (WGS) and family linkage analysis.
- To study the expressions and functions of the newly found TAO genes.
- To associate the phenotypic features of TAO patients with the newly identified TAO gene variants.
研究设计
- 研究类型
- Observational
入排标准
- 性别
- Male
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
研究组 & 干预措施
TAO patients
Blood taking and data collection
TAO family members
Blood taking and data collection
Healthy controls
Blood taking
结局指标
主要结局
Clinical course and family history of the cohort of Thyroid Associated Orbitopathy (TAO) patients in Hong Kong
Gene loci and variants that are associated with TAO by Whole Genome Sequencing (WGS) and family linkage analysis
次要结局
- Expressions and functions of the newly found TAO genes
- Correlation between clinical features of TAO patients and the newly identified TAO gene variants
研究者
研究点 (2)
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