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

This study is currently recruiting participants. (see Contacts and Locations)
Verified March 2012 by University of California, Los Angeles
Sponsor:
Collaborators:
Jules Stein Eye Institute
University of Pittsburgh
Information provided by (Responsible Party):
Michael B. Gorin, University of California, Los Angeles
ClinicalTrials.gov Identifier:
NCT01115387
First received: April 26, 2010
Last updated: March 1, 2012
Last verified: March 2012
  Purpose

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.


Condition Intervention
Age-related Macular Degeneration
Age-related Maculopathy
Other: Observational-1
Other: Observational-2

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Genetics of Age Related Maculopathy

Resource links provided by NLM:


Further study details as provided by University of California, Los Angeles:

Primary Outcome Measures:
  • The incidence and prevalence of retinal findings associated with early (and more advanced) age-related maculopathy in the study cohorts. [ Time Frame: 5 years ] [ Designated as safety issue: No ]
    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.


Biospecimen Retention:   Samples With DNA

Saliva or blood


Estimated Enrollment: 7000
Study Start Date: August 2009
Estimated Study Completion Date: August 2016
Estimated Primary Completion Date: August 2014 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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.


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/

  Eligibility

Ages Eligible for Study:   49 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population

Nationwide study

Criteria

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.
  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 ClinicalTrials.gov identifier: NCT01115387

Contacts
Contact: Michael B Gorin, MD PhD 310 794-5598 garm@jsei.ucla.edu
Contact: Maria C Ortube, MD 310 794-5598 garm@jsei.ucla.edu

Locations
United States, California
Jules Stein Eye Institute, Dept. of Ophthalmology David Geffen School of Medicine at UCLA Recruiting
Los Angeles, California, United States, 90095
Contact: Michael B Gorin, MD PhD    800-286-8581    garm@jsei.ucla.edu   
Contact: Maria C Ortube, MD    800-286-8581    garm@jsei.ucla.edu   
Principal Investigator: Michael B Gorin, MD, PhD         
Sub-Investigator: Maria C Ortube, MD         
Sub-Investigator: Ariadna Martinez, GC         
United States, Pennsylvania
University of Pittsburgh Active, not recruiting
Pittsburgh, Pennsylvania, United States, 15260
Sponsors and Collaborators
University of California, Los Angeles
Jules Stein Eye Institute
University of Pittsburgh
Investigators
Principal Investigator: Michael B Gorin, MD, PhD Jules Stein Eye Institute, UCLA
  More Information

Additional Information:
Publications:

Responsible Party: Michael B. Gorin, Professor of Ophthalmology, University of California, Los Angeles
ClinicalTrials.gov Identifier: NCT01115387     History of Changes
Other Study ID Numbers: 08-11-008, 5R01EY009859
Study First Received: April 26, 2010
Last Updated: March 1, 2012
Health Authority: United States: Institutional Review Board

Keywords provided by University of California, Los Angeles:
Age-related macular degeneration
AMD
Genetic risk
Environmental risk factors
Complex genetic disorder
Age-related maculopathy
Risk modeling
Smoking
Light exposure
Sleep apnea
Fundus Photography
Macula
Drusen
Wet AMD
Dry AMD
Geographic atrophy
Vitamins & supplements

Additional relevant MeSH terms:
Macular Degeneration
Eye Diseases
Retinal Degeneration
Retinal Diseases

ClinicalTrials.gov processed this record on November 25, 2014