Genetic Load and Phenotype in Aggressive AMD

Study Overview
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Brief Summary
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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).

Detailed Description
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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.

Official Title
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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.

Conditions
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Age-related Macular Degeneration

Intervention / Treatment
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* Device: RetnaGene AMD LDT


Participation Criteria
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Eligibility Criteria
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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.

Ages Eligible for Study
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Minimum Age: 50 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| AMD subjects with GA and/or RPED<br>All subjects will have AMD and GA and/or RPED. | Device: RetnaGene AMD LDT<br> <br> |
| AMD subjects with CNV alone<br>All subjects will have the CNV form of AMD only. | Device: RetnaGene AMD LDT<br> <br> |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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). |  | 1 day | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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AMD, age-related macular degeneration