Genetic Load and Phenotype in Aggressive AMD

Age-related Macular Degeneration Clinical Trial

— RPED Genetics  

Official title:

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.

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01650948
• Other study ID #: SQNM-AMD-106
• Status: Completed
• Phase: N/A
• First received: July 24, 2012
• Last updated: January 16, 2014
• Start date: July 2012
• Est. completion date: December 2013

Study information

• Verified date: January 2014
• Source: Sequenom, Inc.
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Central IRB
• Study type: Observational

Clinical Trial 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).

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 100
• Est. completion date: December 2013
• Est. primary completion date: December 2013
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 50 Years and older

Eligibility

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

Observational Model: Cohort, Time Perspective: Prospective

Related Conditions & MeSH terms

• Age-related Macular Degeneration
• Macular Degeneration

Intervention

Device:
• RetnaGene AMD LDT

Locations

Country	Name	City	State
United States	Retina Associates of Kentucky	Lexington	Kentucky
United States	Tennessee Retina	Nashville	Tennessee
United States	Pacific Eye Associates	San Francisco	California

Sponsors (1)

Lead Sponsor	Collaborator
Sequenom, Inc.

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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	No