Association of Genetic Variants With Myopia
Genetic Variants and Their Association With Myopia Risk, Progression, and Optimal Interventions in Children
1 other identifier
observational
1,000
1 country
2
Brief Summary
This study aims to identify genetic factors linked to myopia, including those that influence a person's risk of developing it and how quickly it progresses (like changes in eye length). It will also examine how different treatments-such as low-dose atropine drops, orthokeratology lenses, specialized glasses, and increased outdoor time-interact with these genes. Finally, the research will develop a genetic risk score to help tailor personalized myopia prevention and treatment plans.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Jul 2025
Typical duration for all trials
2 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
April 22, 2025
CompletedFirst Posted
Study publicly available on registry
June 22, 2025
CompletedStudy Start
First participant enrolled
July 1, 2025
CompletedPrimary Completion
Last participant's last visit for primary outcome
August 31, 2028
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 31, 2028
June 22, 2025
June 1, 2025
3.2 years
April 22, 2025
June 11, 2025
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Polygenic Risk Score (PRS) for Myopia Progression
1. Measure the Myopia Progression Rate (Change in Diopters/year) * Measurement Tool: Autorefractor (Topcon KR-8900) * Method: Spherical equivalent refraction (SER) will be measured at baseline and every 6 months, with the annual rate of change (ΔD/year) calculated. * Unit: Diopters (D) 2. Measure the Axial Length Growth Rate (mm/year) * Measurement Tool: Optical Biometer (Zeiss IOLMaster 700) * Method: Axial length (AL) will be measured at baseline and every 6 months, with the annual rate of change (Δmm/year) calcu 3. Genetic Risk Assessment Model * Measurement Tool: Candidate genetic loci will be screened using whole-exome sequencing (WES)or genome-wide association study (GWAS). * A PRS model for myopia progression will be constructed by integrating refractive error (SER) and axial length changes using LASSO, DBSLMM or LDpred2 regression. * The correlation between PRS and myopia progression rate will be evaluated (R² or AUC curve).
Every 6 months for 3 years
Secondary Outcomes (1)
Genotype-Guided Decision Tree for Myopia Control Interventions
Every 6 months for 3 years
Study Arms (2)
Genetic and myopia onset
Identify genetic variants (GWAS/WES) associated with: * Myopia onset risk (high-risk SNPs ). * Myopia progression rate (e.g., axial elongation/year).
Genetic and myopia intervention
Evaluate gene-intervention interactions for: * Low-dose atropine (0.01%, 0.05%). * Orthokeratology. * Defocus-incorporated spectacles. * Outdoor/sunlight exposure (≥2 hours/day).
Interventions
Beyond detecting links between gene variants and myopia development, the testing analyzes how these variants influence treatment effectiveness. The aim is to enable early risk prediction and personalized treatment guidance for children through oral DNA testing.
Eligibility Criteria
Not limited to any specific population group
You may qualify if:
- Age 6-18 years.
- Any Spherical equivalent refraction (SER)
- Parental consent for genetic testing.
You may not qualify if:
- Suspected genetic syndromes (e.g., Stickler, Marfan).
- Other eye diseases (e.g., glaucoma, cataracts, retinal abnormalities, strabismus).
- Prior refractive surgery
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- Beijing Visionly Plus Eye Hospitallead
- Beijing New Vision Eye Hospitalcollaborator
- High Myopia Control Alliance (HIMALAYA)collaborator
Study Sites (2)
Beijing New Vision Eye Hospital
Beijing, 100020, China
Beijing Visionly Plus Eye Hospital
Beijing, 100020, China
Biospecimen
Oral swab DNA
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- COHORT
- Time Perspective
- PROSPECTIVE
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
April 22, 2025
First Posted
June 22, 2025
Study Start
July 1, 2025
Primary Completion (Estimated)
August 31, 2028
Study Completion (Estimated)
December 31, 2028
Last Updated
June 22, 2025
Record last verified: 2025-06