Genetic Load and Phenotype in Aggressive AMD


Patients with AMD will provide cheek cell samples to determine if their is a correlation between genotype (DNA markers) and phenotype (the type of AMD the patient has).

Full Title of Study: “Evaluation of Genetic Variants in Patients Under Treatment for Choroidal Neovascular (CNV) Age-related Macular Degeneration (AMD), Receiving Intravitreal antiVEGF Injections to Evaluate the Association Between Genetic Load and Phenotypes Associated With More Aggressive Forms of Disease.”

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 2013

Detailed Description

This study seeks to test individuals who have already progressed to various forms of AMD to evaluate correlations between genetic markers and particular features of AMD including geographic atrophy and pigment epithelial detachments. We hypothesize that patients with more aggressive forms of AMD will have a higher genetic burden contributed by markers in ARMS 2, Complement Factor H (CFH), Complement component 3 (C3), Complement component 2 (C2) , Factor B (FB), or other genetic polymorphisms associated with CNV.


  • Device: RetnaGene AMD LDT

Arms, Groups and Cohorts

  • AMD subjects with GA and/or RPED
    • All subjects will have AMD and GA and/or RPED.
  • AMD subjects with CNV alone
    • All subjects will have the CNV form of AMD only.

Clinical Trial Outcome Measures

Primary Measures

  • The identification of individual genetic markers or a quantitative measure of total genetic burden found to be significantly associated (p value <0.05) with group classification (CNV only versus CNV with GA and/or RPED).
    • Time Frame: 1 day

Participating in This Clinical Trial

Inclusion Criteria

  • Subject is male or female 50 years of age and older – Subject provides a signed and dated informed consent – Subject agrees to provide two buccal swabs in accordance with this protocol – Diagnosis of CNV secondary to AMD in at least one eye Exclusion Criteria:

  • Previous sample donation under this protocol – Presence of retinal disease involving the photoreceptors and/or outer retinal layers other than AMD loss such as high myopia, retinal dystrophies, central serous retinopathy, vein occlusion, diabetic retinopathy and uveitis or similar outer retinal diseases which have been present prior to the age of 50. – Opacities of the ocular media, limitations of pupillary dilation or other problems sufficient to preclude adequate imaging of the posterior segment.

Gender Eligibility: All

Minimum Age: 50 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Sequenom, Inc.
  • Provider of Information About this Clinical Study
    • Sponsor

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