Clinical trial NCT02779686: PIIR Study: Comparison of Genetic Tests for Age-Related Macular Degeneration
Official title: PIIR Study: Comparison of Genetic Tests for Age-Related Macular Degeneration
Study type: OBSERVATIONAL
Overall status: TERMINATED
Conditions: Age-Related Macular Degeneration (ARMD)
Keywords: Macular Degeneration
Genetic testing
Age-Related Macular degeneration
Age-Related Maculopathies
Lead sponsor: University of Missouri-Columbia
Sponsor class: OTHER
First posted: 2016-05-20
Enrollment: 32
Sex: ALL
Minimum age (years): 60
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Caucasian patients over the age of 60

Brief summary: 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).

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.

Eligibility criteria: 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

Primary outcomes:
measure: Risk score from RetnaGene
timeFrame: Day 1
measure: Risk score from Macula Risk
timeFrame: Day 1
Secondary outcomes:
Other outcomes:
Locations:
city: Chicago
country: United States
facility: Rush University Medical Center
state: Illinois
city: Chesterfield
country: United States
facility: Pepose Vision Institute
state: Missouri
city: Columbia
country: United States
facility: University of Missouri-Columbia
state: Missouri
Study officials:
affiliation: Pepose Vision Institute
name: Nancy Holekamp, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Rush University Medical Center
name: Mathew MacCumber, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: University of Missouri-Columbia
name: Arghavan Almony, MD
role: PRINCIPAL_INVESTIGATOR
References:
citation: 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.
citation: 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. doi: 10.1186/1479-7364-5-5-420.
citation: 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.