NCT01650948

Genetic Load and Phenotype in Aggressive AMD

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.

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 100 (actual)
• Sponsor: Sequenom, Inc. · Industry
• Sex: All
• Age: 50 Years
• Healthy volunteers: Not accepted

Summary

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

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.

Conditions

• Age-related Macular Degeneration

Interventions

Type	Name	Description
DEVICE	RetnaGene AMD LDT

Timeline

• Start date: 2012-07-01
• Primary completion: 2013-12-01
• Completion: 2013-12-01
• First posted: 2012-07-26
• Last updated: 2014-01-20

Locations

3 sites across 1 country: United States