NCT01115387

GARM II: A Study on the Genetics of Age-related Maculopathy

Genetics of Age Related Maculopathy

• Status: Active Not Recruiting
• Phase: —
• Study type: Observational
• Enrollment: 603 (actual)
• Sponsor: University of California, Los Angeles · Academic / Other
• Sex: All
• Age: 49 Years
• Healthy volunteers: Accepted

Summary

The original study (GARM I) has been conducted for more than 18 years at the University of Pittsburgh Medical Center (UPMC). GARM II is a nationwide research study about age-related macular degeneration in the next generation of adults (49 to 65 years old). The purpose of this study is to identify the hereditary and exposure risk factors that lead to the development of ARM (Age related maculopathy). Participants will communicate with the research staff through a protected and confidential website and use this website to complete a number of questionnaires during the course of the study (see below). For genetic analyses, the participants will mail in easily self-collected saliva samples in special containers. Eye photographs and eye health records are sent to the research center from local sources through the Internet. Individuals are not expected to come to UCLA in order to participate. https://jseiclinres.jsei.ucla.edu/garm/ Participants will be expected to answer questionnaires or surveys about medical history, ocular history and visual symptoms, family history, smoking, dietary supplements and light exposure.

Detailed description

Age-related macular degeneration (ARM) is a major cause of vision loss in the elderly. It is thought that smoking and diet may contribute to the risk of developing the condition but it is clear that heredity plays a major role. Variations in two genes, CFH and HTRA1/ARMS2, have been found to strongly contribute to the risk of developing ARM, but there are additional genes that influence a person's chances of having this condition and how they will progress to vision loss. We are investigating these genetic variations that contribute to ARM so that we can eventually understand the causes of this complex condition. We study the genetic variations (SNPs) that are shared among ARM-affected individuals within families as well as compare the frequencies of genetic variations in ARM-affected individuals with those in unaffected persons who are matched in age, gender, and exposures. We are conducting studies with the DNA from our previous cohort of research participants as well as developing a prospective study of high-risk family members and their spouses to evaluate genetic risks and presymptomatic retinal changes. Our long-term goals are to develop new preventive therapies that can slow or halt the development of this disease and to be able to provide these treatments to those who are at greatest risk before they experience vision-threatening changes. The goal of this study (GARM II) is to determine how the combination of genetic, dietary, health and exposure factors such as light, diet, and smoking contributes to one's risk of developing this condition. This is not a treatment study and does not involve any preventive therapies or direct treatments of ARM. We aim to find some insights for future preventive strategies through a group of people who are at a higher than normal risk for developing ARM (because of their family history) and their partners who represent the risk in the general population. Because ARM is a complex disease and is affected by many factors, we also want to know how other medical conditions may be associated or not with this eye condition. Participants will communicate with the research staff through a protected, HIPAA-compliant and confidential website and use this website to complete a number of questionnaires during the course of the study. For genetic analyses, the participants will mail in easily self-collected saliva samples in special containers. Eye photographs and eye health records are sent to the research center from local sources through the Internet. Individuals are not expected to come to UCLA in order to participate. https://jseiclinres.jsei.ucla.edu/garm/

Conditions

• Age-related Macular Degeneration
• Age-related Maculopathy

Interventions

Type	Name	Description
OTHER	Observational-1	Multiple questionnaires detailing family history, medical history, visual symptoms, smoking, environmental and dietary exposures. Prospective photography of the retina to detect early ARM-related changes A saliva or blood sample for genetic testing.
OTHER	Observational-2	A limited number of questionnaires and prior clinical documentation from eye care professionals of eye status with respect to ARM. No prospective retina photographs but ongoing follow-up for reported changes in ARM status. A saliva or blood sample for genetic testing.

Timeline

• Start date: 2011-10-06
• Primary completion: 2016-02-01
• Completion: 2027-03-01
• First posted: 2010-05-04
• Last updated: 2023-11-07

Locations

2 sites across 1 country: United States