Natural History and Risk Factors of TAO
Study Details
Study Description
Brief Summary
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.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
Detailed Description
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.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Grave's disease with TAO Patients with Grave's disease and TAO |
Genetic: DNA extraction and genetic characterization
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.
Device: Orbit MRI examination
Orbit MRI examination is performed to confirm the diagnosis of TAO
Other: Collection of life style data
Collection of life style data using quality of life questionnaire
|
| Grave's disease without TAO Patients with Grave's disease but without TAO |
Genetic: DNA extraction and genetic characterization
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.
Device: Orbit MRI examination
Orbit MRI examination is performed to confirm the diagnosis of TAO
Other: Collection of life style data
Collection of life style data using quality of life questionnaire
|
Outcome Measures
Primary Outcome Measures
- Genetic risk factors of TAO predisposition [1 year]
Genetic risk factors of TAO are identified by pathogenic gene screening using the whole-genome sequencing of peripheral blood cells.
Secondary Outcome Measures
- Cellular biomarkers for risk of TAO [1 year]
Cellular biomarkers for risk of TAO are identified by transcriptomics and mass cytometry
Eligibility Criteria
Criteria
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:
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Pregnancy (positive test) or lactation
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Participating in another simultaneous medical investigation or clinical trial within 3 months
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Having received cellular therapy
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With a history of psychotropic drugs abuse
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With a history of mental disorder
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With a history of malignant tumor
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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
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Zhognshan Ophthalmic Center, Sun Yat-sen University | Guangzhou | China | ||
| 2 | the First People's Hospital of Zhaoqing | Zhaoqing | China |
Sponsors and Collaborators
- Sun Yat-sen University
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 2017KYPJ123