Natural History and Risk Factors of TAO

• Conditions: Thyroid Associated Ophthalmopathy
• Interventions: Genetic: DNA extraction and genetic characterization; Device: Orbit MRI examination; Other: Collection of life style data

• Registration Number: NCT03515863
• Lead Sponsor: Sun Yat-sen University

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.

Study Timeline

• Study First Submitted: 2018-04-23
• Study First Submitted QC: 2018-04-23
• Study First Posted: 2018-05-04
• Study Start: 2018-05-15
• Status Verified: 2019-09
• Last Update Submitted: 2019-09-20
• Last Update Posted: 2019-09-23
• Primary Completion: 2021-05-09
• Study Completion: 2022-05-09

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 400

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Grave's disease with TAO	Collection of life style data	Patients with Grave's disease and TAO
Grave's disease without TAO	Collection of life style data	Patients with Grave's disease but without TAO
Grave's disease with TAO	DNA extraction and genetic characterization	Patients with Grave's disease and TAO
Grave's disease without TAO	DNA extraction and genetic characterization	Patients with Grave's disease but without TAO
Grave's disease with TAO	Orbit MRI examination	Patients with Grave's disease and TAO
Grave's disease without TAO	Orbit MRI examination	Patients with Grave's disease but without TAO

Primary Outcome Measures

Name	Time	Method
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

Name	Time	Method
Cellular biomarkers for risk of TAO	1 year	Cellular biomarkers for risk of TAO are identified by transcriptomics and mass cytometry

Trial Locations

Locations (2)

Zhognshan Ophthalmic Center, Sun Yat-sen University; 🇨🇳 Guangzhou, China

the First People's Hospital of Zhaoqing; 🇨🇳 Zhaoqing, China