Genetic Polymorphism and Retinopathy of Prematurity: Correlation of Clinical Presentations and Severity
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Enrollment
- 500
- Locations
- 1
- Primary Endpoint
- SNP Selection, Detection, and Genotyping
Study Overview
Brief Summary
Study Aim and Goals
- Evaluate the correlation between genetic polymorphism and ROP development
- To study the possibility if there are any specific genetic polymorphisms that lead to poor outcome or recurrence of ROP after treatment.
Detailed Description
Background:
The preterm neonate, especially the low birth weight infant, is at a greater risk to develop disorders in multiple organ systems because of immaturity. Retinopathy of prematurity (ROP) is a disorder of the developing retina of low birth weight preterm infants that has the potential to lead to blindness. Although the pathogenesis and etiology of ROP remains unclear, many causative factors have been proposed. Vascular endothelial growth factor (VEGF) is an important regulator of angiogenesis in fetal life. In humans, polymorphisms in the VEGF gene have been reportedly associated with proliferative diabetic retinopathy and age-related degeneration. These retinal diseases might share the disease process of vasculopathy with ROP. Besides risk factors specifically associated with preterm birth, the activation of pro-inflammatory cytokines has been suggested to contribute to ROP development. Tumor necrosis factor (TNF)-α is one of the major cytokines in inflammation. Its expression was up-regulated in retinal neovascularization in animal models and proliferative eye diseases in humans. Many researchers suggest that TNF-α may affect retinal angiogenesis and predispose preterm infants for later development of ROP. Recent studies showed the possible correlation between ROP and polymorphism in VEGF (-460 T/C, +936 C/T, -634 G/C, and -2578 C/A), or TNF-α (-308 G/A). However, these studies focused on western populations. In our study, we will analyze the relationships among severity, treatment outcomes, and genetic polymorphism findings in ROP.
Study Aim and Goals
- Evaluate the correlation between genetic polymorphism and ROP development
- To study the possibility if there are any specific genetic polymorphisms that lead to poor outcome or recurrence of ROP after treatment.
Study Design Participants: We plan to recruit the children born at Linkou and Taipei branches of Chung Gung Memorial Hospital in 2009-2018, who are willing to undergo series of ophthalmologic examinations.
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 3 Years to 12 Years (Child)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- •Infants born at Linkou and Taipei branches of Chang Gung Memorial Hospital during the study period.
Exclusion Criteria
- •Parents unwilling to participate in the study
- •Incomplete medical records.
- •Folllow-up period less than 6 months
- •Other ocular diagnosis including glaucoma, cataract, FEVR, etc.
Outcomes
Primary Outcomes
SNP Selection, Detection, and Genotyping
Time Frame: 2021-2024
We will analyze around 10 SNPs from each of 53 candidate genes in our study population. Genotyping of 500 selected SNPs will be performed by TaqMan genotyping assays (Applied Biosystems, Foster City, CA) on the 7900HT Fast Real-Time PCR System (384-well platform). Primary outcome comprises frequency of mutations in percentage ratio and risk profile analysis (odds ratio).
Secondary Outcomes
No secondary outcomes reported