Biomarkers of Common Eye Diseases

Study Overview
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Brief Summary
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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.

Detailed Description
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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.

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

Conditions
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Uveitis, Diabetic Retinopathy, Age-related Macular Degeneration, Polypoidal Choroidal Vasculopathy, VKH Syndrome, Behçet Disease

Intervention / Treatment
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* Other: Collection of blood samples


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria for patients: Age over 18 (including 18 years old); 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: Have received more than 2 intravitreal injections of anti-VEGF drugs because of retinal or choroidal neovascularization and macular edema; Patients with stable condition after having undergone panretinal laser photocoagulation and pars plana vitrectomy (PPV); 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; Patients who are pregnant or nursing

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with VKH, BD, DR, AMD, or PCV<br>Collection of blood samples and clinical information from patients with VKH, BD, DR, AMD, or PCV | Other: Collection of blood samples<br>* Collection of blood samples for DNA extraction and genetic characterization, and for identification of peripheral blood biomarkers using single-cell transcriptomics and mass cytometry.<br>|
| Healthy subjects<br>Collection of blood samples and clinical information | Other: Collection of blood samples<br>* Collection of blood samples for DNA extraction and genetic characterization, and for identification of peripheral blood biomarkers using single-cell transcriptomics and mass cytometry.<br>|

What is the study measuring?
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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 |