PIIR Study: Comparison of Genetic Tests for Age-Related Macular Degeneration


This study is being conducted to compare two different genetic tests developed to determine an individuals risk of developing serious vision threatening complications from age-related macular degeneration (ARMD).

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: December 2012

Detailed Description

There are currently two different genetic tests that have been developed for this purpose. They both look at specific DNA components to determine the risk. Participants in the study will be over the age of 60 years and caucasian as this is the population of people in which these tests have been validated. Each participant will have the study explained to them and then will be asked to sign the informed consent document if they agree to participate. They will have a dilated exam of their eyes along with photographs taken of the retina. If their doctor sees that it is necessary they will also have a special scan or a special angiogram of their eyes to look at their retina in more detail. For the genetic testing a member of the research team will use two swabs from each of the genetic companies to gently scrap some cells from the inside of the cheek. These cells will be sent to each respective lab for analysis.

Arms, Groups and Cohorts

  • ARMD Free
    • Patient free of ARMD on clinical examination
  • ARMD Positive
    • Patients with evidence of ARMD on clinical examination

Clinical Trial Outcome Measures

Primary Measures

  • Risk score from RetnaGene
    • Time Frame: Day 1
    • Risk score assigned after genetic analysis of a buccal swab by the RetnaGene (Sequenom) genetic test.
  • Risk score from Macula Risk
    • Time Frame: Day 1
    • Risk score assigned after genetic analysis of a buccal swab by the Macula Risk genetic test.

Participating in This Clinical Trial

Inclusion Criteria

  • Caucasian race
  • Age >/= 60 years
  • Patient's written informed consent
  • Ability to comply with the protocol procedures

Exclusion Criteria

  • Race other than Caucasian
  • Age < 60 years
  • Macular or retinal pathology other than ARMD
  • Known hypersensitivity to any drug included in the treatment protocol
  • Any other severe clinical condition that in the judgment of the local investigator would place the patient at undue risk or interfere with the study completion
  • Prisoners

Gender Eligibility: All

Minimum Age: 60 Years

Maximum Age: N/A

Are Healthy Volunteers Accepted: Accepts Healthy Volunteers

Investigator Details

  • Lead Sponsor
    • University of Missouri-Columbia
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Nancy Holekamp, MD, Principal Investigator, Pepose Vision Institute
    • Mathew MacCumber, MD, PhD, Principal Investigator, Rush University Medical Center
    • Arghavan Almony, MD, Principal Investigator, University of Missouri-Columbia


Seddon JM, Reynolds R, Maller J, Fagerness JA, Daly MJ, Rosner B. Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables. Invest Ophthalmol Vis Sci. 2009 May;50(5):2044-53. doi: 10.1167/iovs.08-3064. Epub 2008 Dec 30.

Hageman GS, Gehrs K, Lejnine S, Bansal AT, Deangelis MM, Guymer RH, Baird PN, Allikmets R, Deciu C, Oeth P, Perlee LT. Clinical validation of a genetic model to estimate the risk of developing choroidal neovascular age-related macular degeneration. Hum Genomics. 2011 Jul;5(5):420-40.

Zanke B, Hawken S, Carter R, Chow D. A genetic approach to stratification of risk for age-related macular degeneration. Can J Ophthalmol. 2010 Feb;45(1):22-7. doi: 10.3129/i09-209. Review.

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