Working… Menu

Genetic Load and Phenotype in Aggressive AMD (RPED Genetics)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01650948
Recruitment Status : Completed
First Posted : July 26, 2012
Last Update Posted : January 20, 2014
Information provided by (Responsible Party):
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).

Condition or disease Intervention/treatment
Age-related Macular Degeneration Device: RetnaGene AMD LDT

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.

Layout table for study information
Study Type : Observational
Actual Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Prospective
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.
Study Start Date : July 2012
Actual Primary Completion Date : December 2013
Actual Study Completion Date : December 2013

Resource links provided by the National Library of Medicine

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

Primary Outcome Measures :
  1. 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 ]

Biospecimen Retention:   Samples With DNA
DNA samples and remnants will be destroyed after analysis.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

Layout table for eligibility information
Ages Eligible for Study:   50 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Probability Sample
Study Population
Patients with AMD who are or have been treated with anti-VEGF therapy

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.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01650948

Layout table for location information
United States, California
Pacific Eye Associates
San Francisco, California, United States, 94115
United States, Kentucky
Retina Associates of Kentucky
Lexington, Kentucky, United States, 40509
United States, Tennessee
Tennessee Retina
Nashville, Tennessee, United States, 37203
Sponsors and Collaborators
Sequenom, Inc.
Layout table for additonal information
Responsible Party: Sequenom, Inc. Identifier: NCT01650948    
Other Study ID Numbers: SQNM-AMD-106
First Posted: July 26, 2012    Key Record Dates
Last Update Posted: January 20, 2014
Last Verified: January 2014
Keywords provided by Sequenom, Inc.:
age-related macular degeneration
Additional relevant MeSH terms:
Layout table for MeSH terms
Macular Degeneration
Retinal Degeneration
Retinal Diseases
Eye Diseases