Genetic Polymorphism and Retinopathy of Prematurity: Correlation of Clinical Presentations and Severity

NCT05132257 | Unknown

• 1 other identifier: 202001715A3
• Study Type: observational
• Target: 500
• Locations: 1 country
• Sites: 1

Brief Summary

Study Aim and Goals

1. 1.Evaluate the correlation between genetic polymorphism and ROP development
2. 2.To study the possibility if there are any specific genetic polymorphisms that lead to poor outcome or recurrence of ROP after treatment.

Conditions

Retinopathy of Prematurity; Genetic Polymorphism

Keywords

Retinopathy of prematurity, genetic polymorphism

Outcome Measures

Primary Outcomes (1)

• SNP Selection, Detection, and Genotyping

  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).

  2021-2024

Study Arms (4)

PM No-ROP

Premature without retinopathy of prematurity. Prematurity was defined as birth at \< 37 weeks gestation.

Mild ROP

Prematurity with mild retinopathy of prematurity. ROP not needing treatment. Prematurity was defined as birth at \< 37 weeks gestation.

Severe ROP

Prematurity with type 1 retinopathy of prematurity. Prematurity was defined as birth at \< 37 weeks gestation.

Procedure: Severe ROP

Fullterm

Heathal fullterm.

Interventions

Severe ROP PROCEDURE

The treatment for ROP was either primary intravitreal injection (IVI) of anti-vascular endothelial growth factor (anti-VEGF) or laser photocoagulation or vitrectomy, and the indication for treatment was type 1 ROP, as defined by the ETROP Study.

Also known as: Type 1 ROP

Severe ROP

Eligibility Criteria

• Age: 3 Years - 12 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

We recruit the children born at Linkou and Taipei branches of Chung Gung Memorial Hospital in the study period, who are willing to undergo series of ophthalmologic examination

You may qualify if:

• \. Infants born at Linkou and Taipei branches of Chang Gung Memorial Hospital during the study period.

You may not qualify if:

• 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.

Sponsors & Collaborators

• Chang Gung Memorial Hospital: lead

Study Sites (1)

Department of Ophthalmology, Chang Gung Memorial Hospital.

Linkou District, Taoyuan, 33305, Taiwan

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Our approach for SNP selection from candidate genes includes maximum utilization of data available from databases (dbSNP, HapMap) and from our own screening for informative genetic markers. In general, SNP variants for genotyping will be selected from available databases, such as dbSNP. In cases where a candidate gene has not been screened comprehensively and/or where data on allele frequencies is not readily available (estimated in 20-25 out of 50 genes, such as ANG-1, ALK-1, etc.), SNPs will be detected by direct sequencing of 20-40 study subjects. This will allow us to identify all alleles with population frequency \>5%, including intronic SNPs, variants from the regulatory regions (mainly promoters), and cSNPs included in open reading frames. Data obtained by direct screening also validates the information extracted from databases, which still contain incomplete information in up to 25% of cases.

MeSH Terms

Conditions

Retinopathy of Prematurity

Condition Hierarchy (Ancestors)

Retinal Diseases; Eye Diseases; Infant, Premature, Diseases; Infant, Newborn, Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Wu WeiChi, M.D., PhD.

  Chang Gung Memorial Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Wu WeiChi, M.D., PhD.

CONTACT

886-3-3281200; weichi666@gmail.com

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 2, 2021
• First Posted: November 24, 2021
• Study Start: April 12, 2021
• Primary Completion: March 31, 2024
• Study Completion: March 31, 2024
• Last Updated: May 6, 2023

Record last verified: 2023-05

Locations

TW (1)