Natural History and Risk Factors of TAO

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

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.

Study Overview

• Status: Unknown
• Conditions: Thyroid Associated Ophthalmopathy
• Intervention / Treatment: Genetic: DNA extraction and genetic characterization; Device: Orbit MRI examination; Other: Collection of life style data

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 Type: Observational
• Enrollment (Anticipated): 400

Contacts and Locations

• Study Contact: Name: Yingfeng Zheng; Phone Number: +8613922286455; Email: zhyfeng@mail.sysu.edu.cn

Study Locations

• China
  • Guangzhou, China
    • Recruiting
    • Zhognshan Ophthalmic Center, Sun Yat-sen University
    • Contact: Yizhi Liu
  • Zhaoqing, China
    • Recruiting
    • The First People's Hospital of Zhaoqing
    • Contact: Haobo Chen

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years to 80 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

TAO Patients:

Patients who are diagnosed as Grave's disease and TAO are enrolled into the study from 2 clinical centers. This diagnosis is made according to classical criteria of TAO, including thyroid function testing, ocular examination and orbit MRI examination.

Control:

Patients who are diagnosed as Grave's disease but without ocular signs are enrolled into the study from 2 clinical centers. This diagnosis of Grave's disease is made according to classical criteria including thyroid function testing. Ocular signs are excluded by routine ocular examination and orbit MRI examination.

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	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

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Sun Yat-sen University

Study record dates

Study Major Dates

• Study Start (Actual): May 15, 2018
• Primary Completion (Anticipated): May 9, 2021
• Study Completion (Anticipated): May 9, 2022

Study Registration Dates

• First Submitted: April 23, 2018
• First Submitted That Met QC Criteria: April 23, 2018
• First Posted (Actual): May 4, 2018

Study Record Updates

• Last Update Posted (Actual): September 23, 2019
• Last Update Submitted That Met QC Criteria: September 20, 2019
• Last Verified: September 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Immune System Diseases; Autoimmune Diseases; Endocrine System Diseases; Genetic Diseases, Inborn; Thyroid Diseases; Eye Diseases, Hereditary; Graves Disease; Exophthalmos; Orbital Diseases; Goiter; Hyperthyroidism; Eye Diseases; Graves Ophthalmopathy
• Other Study ID Numbers: 2017KYPJ123

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No