Genetic Load and Phenotype in Aggressive AMD (RPED Genetics)

January 16, 2014 updated by: Sequenom, Inc.

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.

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).

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • San Francisco, California, United States, 94115
        • Pacific Eye Associates
    • Kentucky
      • Lexington, Kentucky, United States, 40509
        • Retina Associates of Kentucky
    • Tennessee
      • Nashville, Tennessee, United States, 37203
        • Tennessee Retina

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

50 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

Study Population

Patients with AMD who are or have been treated with anti-VEGF therapy

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

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

What is the study measuring?

Primary Outcome Measures

Outcome Measure
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).
Time Frame: 1 day
1 day

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sequenom, Inc.

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

July 1, 2012

Primary Completion (Actual)

December 1, 2013

Study Completion (Actual)

December 1, 2013

Study Registration Dates

First Submitted

July 24, 2012

First Submitted That Met QC Criteria

July 25, 2012

First Posted (Estimate)

July 26, 2012

Study Record Updates

Last Update Posted (Estimate)

January 20, 2014

Last Update Submitted That Met QC Criteria

January 16, 2014

Last Verified

January 1, 2014

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • SQNM-AMD-106

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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