Thyroid Associated Ophthalmopathy
Conditions
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.
Interventions
GENETICDNA 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.
DEVICEOrbit MRI examination
Orbit MRI examination is performed to confirm the diagnosis of TAO
OTHERCollection of life style data
Collection of life style data using quality of life questionnaire
Sponsors
Sun Yat-sen University
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to 80 Years
Healthy volunteers
No
Inclusion criteria
1. Patients of Grave's disease with the history of more than 1 years 2. 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
1. Pregnancy (positive test) or lactation 2. Participating in another simultaneous medical investigation or clinical trial within 3 months 3. Having received cellular therapy 4. With a history of psychotropic drugs abuse 5. With a history of mental disorder 6. With a history of malignant tumor 7. 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| Cellular biomarkers for risk of TAO | 1 year | Cellular biomarkers for risk of TAO are identified by transcriptomics and mass cytometry |
Countries
China
Contacts
Primary ContactYingfeng Zheng
Outcome results
None listed