Natural History and Risk Factors of TAO

Study Overview
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Brief Summary
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The aim of this study is to complete the identification of genetic factors predisposing to thyroid associated ophthalmopathy (TAO) by constituting a cohort of 400 Grave's patients with or without ocular signs.

Detailed Description
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Graves' disease (GD) is a common autoimmune condition, and its ocular condition is known as thyroid-associated ophthalmopathy (TAO). There is considerable evidence that both genetic and environmental factors are involved in the development of TAO. We conduct a study of 400 Grave's patients, with or without TAO, and obtain the following data: genetic tests, ocular imaging and life style information. Genetic tests are obtained by collection of blood samples for DNA extraction, whole-genome sequencing, and identification of cellular biomarkers, using transcriptomics and mass cytometry. Ocular imaging data are collected from Orbit MRI examination. Life style data are collected using a standardized questionnaire.

Official Title
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Natural History and Genetic Risk Factors of Thyroid Associated Ophthalmopathy (TAO)

Conditions
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Thyroid Associated Ophthalmopathy

Intervention / Treatment
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* Genetic: DNA extraction and genetic characterization
* Device: Orbit MRI examination
* Other: Collection of life style data


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients of Grave's disease with the history of more than 1 years Informed consent signed by a patient or legal guardian, or having the ability to comply with study assessments for the full duration of the study Exclusion Criteria: Pregnancy (positive test) or lactation Participating in another simultaneous medical investigation or clinical trial within 3 months Having received cellular therapy With a history of psychotropic drugs abuse With a history of mental disorder With a history of malignant tumor Any medical or social condition that in the judgment of the investigator would interfere with or serve as a contraindication to adherence to the study protocol or ability to give informed consent

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Grave's disease with TAO<br>Patients with Grave's disease and TAO | Genetic: DNA extraction and genetic characterization<br>* Collection of blood samples for DNA extraction and genetic characterization using whole-genome sequencing, and for identification of cellular biomarkers using transcriptomics and mass cytometry.<br>Device: Orbit MRI examination<br>* Orbit MRI examination is performed to confirm the diagnosis of TAO<br>Other: Collection of life style data<br>* Collection of life style data using quality of life questionnaire<br>|
| Grave's disease without TAO<br>Patients with Grave's disease but without TAO | Genetic: DNA extraction and genetic characterization<br>* Collection of blood samples for DNA extraction and genetic characterization using whole-genome sequencing, and for identification of cellular biomarkers using transcriptomics and mass cytometry.<br>Device: Orbit MRI examination<br>* Orbit MRI examination is performed to confirm the diagnosis of TAO<br>Other: Collection of life style data<br>* Collection of life style data using quality of life questionnaire<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Genetic risk factors of TAO predisposition | Genetic risk factors of TAO are identified by pathogenic gene screening using the whole-genome sequencing of peripheral blood cells. | 1 year | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Cellular biomarkers for risk of TAO | Cellular biomarkers for risk of TAO are identified by transcriptomics and mass cytometry | 1 year |