Natural History and Genetic Risk Factors of Thyroid Associated Ophthalmopathy (TAO)
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Thyroid Associated Ophthalmopathy
- Sponsor
- Sun Yat-sen University
- Enrollment
- 400
- Locations
- 2
- Primary Endpoint
- Genetic risk factors of TAO predisposition
- Last Updated
- 6 years ago
Overview
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.
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.
Investigators
Yingfeng Zheng
Clinical investigator
Sun Yat-sen University
Eligibility 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
- •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
Outcomes
Primary Outcomes
Genetic risk factors of TAO predisposition
Time Frame: 1 year
Genetic risk factors of TAO are identified by pathogenic gene screening using the whole-genome sequencing of peripheral blood cells.
Secondary Outcomes
- Cellular biomarkers for risk of TAO(1 year)