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Genetic Load and Phenotype in Aggressive AMD (RPED Genetics)

This study has been completed.
Information provided by (Responsible Party):
Sequenom, Inc. Identifier:
First received: July 24, 2012
Last updated: January 16, 2014
Last verified: January 2014
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 Intervention
Age-related Macular Degeneration Device: RetnaGene AMD LDT

Study Type: Observational
Study Design: 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.

Resource links provided by NLM:

Further study details as provided by Sequenom, Inc.:

Primary Outcome Measures:
  • 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.

Enrollment: 100
Study Start Date: July 2012
Study Completion Date: December 2013
Primary Completion Date: December 2013 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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

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.

Ages Eligible for Study:   50 Years and older   (Adult, Senior)
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.
  Contacts and Locations
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, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01650948

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.
  More Information

Responsible Party: Sequenom, Inc. Identifier: NCT01650948     History of Changes
Other Study ID Numbers: SQNM-AMD-106
Study First Received: July 24, 2012
Last Updated: January 16, 2014

Keywords provided by Sequenom, Inc.:
age-related macular degeneration

Additional relevant MeSH terms:
Macular Degeneration
Retinal Degeneration
Retinal Diseases
Eye Diseases processed this record on August 23, 2017