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NCT Number: NCT07030153

Association of Genetic Variants With Myopia

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.

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Key information

Conditions

Myopia Eye Diseases Refractive Errors

Age range

6 year–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Beijing New Vision Eye Hospital, Beijing, China

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Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Age 6-18 years.
  • Any Spherical equivalent refraction (SER)
  • Parental consent for genetic testing.

Exclusion criteria

  • Suspected genetic syndromes (e.g., Stickler, Marfan).
  • Other eye diseases (e.g., glaucoma, cataracts, retinal abnormalities, strabismus).
  • Prior refractive surgery

Treatment and study plan

Oral swab DNA analyzed for myopia-related gene variants

Genetic

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.

Primary outcomes

  1. Polygenic Risk Score (PRS) for Myopia Progression

    Time frame: Every 6 months for 3 years

    • 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)
    • 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
    • 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).

Secondary outcomes

  1. Genotype-Guided Decision Tree for Myopia Control Interventions

    Time frame: Every 6 months for 3 years

    • Data Collection
    • error (spherical equivalent, ΔD/year) - Measured via autorefractor (per Primary Outcome Measure)
    • Axial length (Δmm/year) - Measured via optical biometer (per Secondary Outcome Measure)
    • Genetic Data: Myopia-associated SNPs (derived from WES/GWAS)
    • Clinical Intervention Data: Type of myopia control intervention (e.g., 0.01% atropine, orthokeratology, defocus-incorporated spectacles, myopia-control soft contact lenses)
    • Analytical Pipeline
    • Compute individual PRS by aggregating weighted risk alleles (SNP effect sizes from GWAS or WES)
    • Optimal Intervention Stratification
    • Apply logistic regression/decision tree analysis to:Identify PRS threshold(s) predictive of treatment response. Test hypotheses ( "Subjects with PRS >X exhibit superior efficacy with atropine vs. orthokeratology")
    • Clinical Translation
    • Generate decision trees or nomograms to visualize:
    • PRS-guided intervention selection
    • Predicted treatment efficacy probabilities

Study contacts

Contact information is provided by the study sponsor or research team.

Lin Yang, M.D.

CONTACT

[email protected]

+86-17898805125

Sponsors and collaborators

Lead sponsor

Beijing Visionly Plus Eye Hospital

Other

Collaborators

  • Beijing New Vision Eye Hospital
  • High Myopia Control Alliance (HIMALAYA)

Registry information

Official study title

Genetic Variants and Their Association With Myopia Risk, Progression, and Optimal Interventions in Children

Important dates

Study start
2025
Primary completion
2028
Study completion
2028
First posted
Jun 22, 2025
Registry last updated
Jun 22, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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