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

November 3, 2023 updated by: Michael B. Gorin, University of California, Los Angeles

Genetics of Age Related Maculopathy

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.

Study Overview

Status

Active, not recruiting

Conditions

Intervention / Treatment

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/

Study Type

Observational

Enrollment (Actual)

603

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • California
      • Los Angeles, California, United States, 90095
        • Jules Stein Eye Institute, Dept. of Ophthalmology David Geffen School of Medicine at UCLA
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States, 15260
        • University of Pittsburgh

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

49 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

Nationwide study

Description

Inclusion Criteria:

  • Individuals should have an email account and access to the Internet in order to use the website for this study. Individuals who are unfamiliar or physically challenged with using computers may have another person assist them with reviewing messages, questions and entering information and making inquiries.
  • ARM at-risk individuals between the ages of 49 to 65 years old who have at least one parent either deceased or alive with diagnosis of macular degeneration. This group includes the "third generation children" of our original GARM study.
  • Individuals between the ages of 49 to 65 years old who are either a spouse or partner of an ARM at-risk adult (those individuals described above with a parent diagnosed with ARM).
  • Individuals who have vision loss from ARM and a known family history of ARM (at least a brother, sister, or a parent). These individuals should have at least one at-risk child between the ages of 49 to 65 years old who is willing to participate in this study.

Exclusion Criteria:

  • Inability to give informed consent. Adaptations will be provided to allow those who are unable to read because of vision loss to participate in the informed consent process.(Proxy)
  • For the at risk individuals and their spouses/partners, they will be excluded if they do not have access and the ability to use a computer that is connected to the Internet.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
ARM at risk individuals

A group of 1,500 participants (from 49 to 65 years old) who have at least one parent with age related maculopathy.

These individuals with ARM-affected parents and relatives have a substantially higher risk (6-12 fold) of developing ARM than the general population. They will be followed prospectively with fundus photography every two years and questionnaires (distributed over six month intervals) to assess external risks for ARM development in order to investigate genotype-phenotype correlations of early onset clinical features of ARM.
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.
Partners/Spouses of ARM at risk individuals

A group of 1,500 participants (from 49 to 65 years old) who are the spouses/partners of individuals with ARM affected parents.

We will invite the partners or spouses to participate in order to compare their risk of developing ARM with those individuals with an increased risk of ARM based on a positive family history.
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.
ARM affected individuals and relatives.

Individuals who have experienced vision loss from ARM and have at least one brother or sister who also has experienced vision loss from ARM can participate in the study. They also need to have at least one adult child (from 49 to 65 years old) who wishes to participate in this study.

We will allow for additional recruitment to compensate for additional family members (such as parents, aunts and uncles) who wish to participate as well as to address potential drop out and those who may be deemed ineligible based on review of their medical and/or eye records. As many as 4000 individuals in this group will be allowed to enroll.
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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
The incidence and prevalence of retinal findings associated with early (and more advanced) age-related maculopathy in the study cohorts.
Time Frame: 5 years
The primary outcome measure is the presence or absence of early retinal changes with age-related maculopathy in order to develop and test a model which combines genetic, environmental and dietary risk factors to predict which at risk individuals are most likely to develop signs of age-related maculopathy within the study period.
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of California, Los Angeles

Collaborators

National Eye Institute (NEI)
University of Pittsburgh
Jules Stein Eye Institute

Investigators

  • Principal Investigator: Michael B Gorin, MD, PhD, Jules Stein Eye Institute, UCLA

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 6, 2011

Primary Completion (Actual)

February 1, 2016

Study Completion (Estimated)

March 1, 2027

Study Registration Dates

First Submitted

April 26, 2010

First Submitted That Met QC Criteria

April 30, 2010

First Posted (Estimated)

May 4, 2010

Study Record Updates

Last Update Posted (Actual)

November 7, 2023

Last Update Submitted That Met QC Criteria

November 3, 2023

Last Verified

November 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 08-11-008
  • 5R01EY009859 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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