Genetic Load and Phenotype in Aggressive AMD

Completed

• Conditions: Age-related Macular Degeneration
• Interventions: Device: RetnaGene AMD LDT

• Registration Number: NCT01650948
• Lead Sponsor: Sequenom, Inc.

Brief 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.

Study Timeline

• Study Start: 2012-07
• Study First Submitted: 2012-07-24
• Study First Submitted QC: 2012-07-25
• Study First Posted: 2012-07-26
• Primary Completion: 2013-12
• Study Completion: 2013-12
• Status Verified: 2014-01
• Last Update Submitted: 2014-01-16
• Last Update Posted: 2014-01-20

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 100

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
AMD subjects with GA and/or RPED	RetnaGene AMD LDT	All subjects will have AMD and GA and/or RPED.
AMD subjects with CNV alone	RetnaGene AMD LDT	All subjects will have the CNV form of AMD only.

Primary Outcome Measures

Name	Time	Method
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

Trial Locations

Locations (3)

Tennessee Retina; 🇺🇸 Nashville, Tennessee, United States

Retina Associates of Kentucky; 🇺🇸 Lexington, Kentucky, United States

Pacific Eye Associates; 🇺🇸 San Francisco, California, United States