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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.

Tracking Information
First Submitted Date July 24, 2012
First Posted Date July 26, 2012
Last Update Posted Date January 20, 2014
Study Start Date July 2012
Actual Primary Completion Date December 2013   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: July 25, 2012)
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 ]
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
Descriptive Information
Brief Title Genetic Load and Phenotype in Aggressive AMD
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.
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 Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Retention:   Samples With DNA
DNA samples and remnants will be destroyed after analysis.
Sampling Method Probability Sample
Study Population Patients with AMD who are or have been treated with anti-VEGF therapy
Condition Age-related Macular Degeneration
Intervention Device: RetnaGene AMD LDT
Study Groups/Cohorts
  • AMD subjects with GA and/or RPED
    All subjects will have AMD and GA and/or RPED.
    Intervention: Device: RetnaGene AMD LDT
  • AMD subjects with CNV alone
    All subjects will have the CNV form of AMD only.
    Intervention: Device: RetnaGene AMD LDT
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by Identifier (NCT Number) in Medline.
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: July 25, 2012)
Original Estimated Enrollment Same as current
Actual Study Completion Date December 2013
Actual Primary Completion Date December 2013   (Final data collection date for primary outcome measure)
Eligibility Criteria

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.
Sexes Eligible for Study: All
Ages 50 Years and older   (Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
Administrative Information
NCT Number NCT01650948
Other Study ID Numbers SQNM-AMD-106
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Sequenom, Inc.
Study Sponsor Sequenom, Inc.
Collaborators Not Provided
Investigators Not Provided
PRS Account Sequenom, Inc.
Verification Date January 2014