Biomarkers of Common Eye Diseases

Using Next-Generation Sequencing Technology to Identify Biomarkers of Common Eye Diseases

To identify biomarkers of common eye diseases based on single-cell sequencing technologies using PBMC samples. These diseases include uveitis, diabetic retinopathy, age-related macular degeneration and polypoid choroidal vasculopathy. Our study may provide new insight into the underlying mechanisms, and reveal novel predictors and intervention targets for the diagnosis, prognosis and treatment of these diseases.

Study Overview

• Status: Unknown
• Conditions: Uveitis; Diabetic Retinopathy; Age-related Macular Degeneration; Polypoidal Choroidal Vasculopathy; Behçet Disease; VKH Syndrome
• Intervention / Treatment: Other: Collection of blood samples

Detailed Description

The pathogenesis of common eye diseases such as uveitis (including Behcet's disease (BD) and Vogt-Koyanagi-Harada disease (VKH)), diabetic retinopathy (DR), age-related macular degeneration (AMD) and polypoid choroidal vasculopathy (PCV) remains unknown. Although immunosuppressants, anti-vascular endothelial growth factor (VEGF) agents, and pars plana vitrectomy (PPV) have been widely used for treatment, the current therapeutic options are limited. In addition, there is a lack of biomarkers to indicate the prognosis and treatment response of these diseases. The aim of this study is to identify biomarkers and to provide a new target for individualized diagnosis and treatment of common eye diseases based on single cell sequencing technology.

• Study Type: Observational
• Enrollment (Anticipated): 220

Contacts and Locations

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

Study Locations

• China
  • Guangdong
    • Guangzhou, Guangdong, China, 510000
      • Recruiting
      • Zhognshan Ophthalmic Center, Sun Yat-sen University
      • Contact: Yingfeng Zheng; Phone Number: +8613922286455; Email: zhyfeng@mail.sysu.edu.cn

Participation Criteria

Eligibility Criteria

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

• Sampling Method: Non-Probability Sample

Study Population

Healthy subjects and patients who are diagnosed as DR, VKH, BD, AMD, or PCV will be enrolled.

Description

Inclusion Criteria for patients:

1. Age over 18 (including 18 years old);
2. Clinically diagnosed as diabetic retinopathy (DR), uveitis (VKH or BD) , age-related macular degeneration (AMD) , or polypoid choroidal vasculopathy (PCV)

Exclusion Criteria for patients with retinal diseases:

1. Have received more than 2 intravitreal injections of anti-VEGF drugs because of retinal or choroidal neovascularization and macular edema;
2. Patients with stable condition after having undergone panretinal laser photocoagulation and pars plana vitrectomy (PPV);
3. There are other serious systemic diseases of the body, such as history of chronic kidney disease requiring dialysis or a kidney transplant, unstable blood pressure, cardiovascular disease, tumors, etc;
4. Patients who are pregnant or nursing

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
Patients with VKH, BD, DR, AMD, or PCV; Collection of blood samples and clinical information from patients with VKH, BD, DR, AMD, or PCV	Other: Collection of blood samples; Collection of blood samples for DNA extraction and genetic characterization, and for identification of peripheral blood biomarkers using single-cell transcriptomics and mass cytometry.
Healthy subjects; Collection of blood samples and clinical information	Other: Collection of blood samples; Collection of blood samples for DNA extraction and genetic characterization, and for identification of peripheral blood biomarkers using single-cell transcriptomics and mass cytometry.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Peripheral blood mononuclear cell (PBMC) signatures	PBMC signatures, derived from single cell sequencing and mass spectrometry, will be compared for the same patient before and after treatment, among patients of different symptoms and severity measures, and also between patients and healthy subjects. Upon these comparisons, biomarkers will be established for the patient population.	1 year

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
PBMC cell types frequencies	PBMC cell types frequencies, derived from single cell sequencing and mass spectrometry, will be compared for the same patient before and after treatment, among patients of different symptoms and severity measures, and also between patients and healthy subjects.	1 year

Collaborators and Investigators

• Sponsor: Sun Yat-sen University

Study record dates

Study Major Dates

• Study Start (Actual): September 26, 2019
• Primary Completion (Anticipated): October 1, 2020
• Study Completion (Anticipated): October 1, 2021

Study Registration Dates

• First Submitted: September 20, 2019
• First Submitted That Met QC Criteria: September 23, 2019
• First Posted (Actual): September 24, 2019

Study Record Updates

• Last Update Posted (Actual): September 27, 2019
• Last Update Submitted That Met QC Criteria: September 25, 2019
• Last Verified: September 1, 2019

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Cardiovascular Diseases; Vascular Diseases; Nervous System Diseases; Skin Diseases; Immune System Diseases; Autoimmune Diseases of the Nervous System; Autoimmune Diseases; Endocrine System Diseases; Diabetic Angiopathies; Diabetes Complications; Diabetes Mellitus; Retinal Degeneration; Retinal Diseases; Genetic Diseases, Inborn; Stomatognathic Diseases; Mouth Diseases; Uveitis, Anterior; Panuveitis; Uveal Diseases; Vasculitis; Hereditary Autoinflammatory Diseases; Skin Diseases, Genetic; Skin Diseases, Vascular; Macular Degeneration; Behcet Syndrome; Diabetic Retinopathy; Eye Diseases; Uveitis; Uveomeningoencephalitic Syndrome
• Other Study ID Numbers: 2019KYPJ114

Drug and device information, study documents

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