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AMD Phenotype and Genotype Study

Completed
Conditions
AMD
Age-Related Macular Degeneration
Registration Number
NCT01778491
Lead Sponsor
National Eye Institute (NEI)
Brief Summary

Background:

- Age-related macular degeneration (AMD) is a disease that blurs the sharp vision needed for activities such as reading, sewing, and driving. It affects the macula, the center of the retina at the back of the eye, which allows a person to see fine detail. Researchers want to collect medical histories, eye exam data, and genetic information that may be associated with AMD. They want to compare this information with information collected from people without AMD.

Objectives:

- To collect medical information and gene samples for researchers studying AMD.

Eligibility:

* Individuals between and 60 and 90 years of age who have AMD in at least one eye.

* Individuals between and 60 and 90 years of age who have no AMD in either eye.

Design:

* This study will involve one study visit. This study visit will last 6 to 8 hours.

* Participants will have the following tests and exams as part of their study visit:

* Full physical exam and medical history

* Full eye examination

* Laser scan of the eye

* Retina function test

* Vision sensitivity test

* Optional blood sample (for genetic study)

* No treatment will be provided as part of this study.

Detailed Description

Objective: Late age-related macular degeneration (AMD) is the leading cause of blindness among elderly in the United States. At present the current classification systems do not take into consideration advances in imaging technology and genotyping and phenotyping.

Clinical centers in the US and around the world will conduct a pilot cohort study that will bring together resources and commitment to test the feasibility of developing a new classification scheme for AMD using imaging and visual function biomarkers, with the potential of correlating genetic information obtained in the future. These data could eventually help develop an understanding of the mechanisms involved in the development and progression of AMD. A database of men and women with and without AMD will be established and maintained. The project will recruit participants who have various stages of AMD and controls. The pilot study will identify the feasibility of obtaining imaging and visual function data and help identify which of these modalities should be included in a full scale longitudinal study, as well as how frequently and at which sites they should be obtained. All data, images and any potential biospecimens from the full scale longitudinal study will be available to researchers worldwide to help in the development of biomarker identification and classification development. The initiative should provide an unparalleled state-of-the-art standardized phenotype/genotype including AMD status with information on imaging, visual function, and biospecimen biomarkers. This study is the first phase of this initiative to test the feasibility and logistics of defining a standard database including enhanced phenotype and genotype data.

Study Population: This cohort study will recruit a minimum of 200 total participants with various stages of AMD, including controls and obtain the appropriate images and measures of visual function needed for the investigation and validation of an AMD phenotype.

Design: This cohort study is a multi-national, multi-center, observational study focused on AMD. The study is a pilot to test the ability to create an archive of data, biological samples (collected at other study sites), measures of visual function and ophthalmic images collected over time from a very well clinically characterized population of participants with a diagnosis of AMD. The database will also include a control group consisting of participants without a diagnosis of AMD.

Outcome Measures: The design of this cohort study and the data being collected will allow users to assess phenotypes of AMD, develop and evaluate potential markers and risk factors, develop and evaluate an AMD classification scheme(s), and assess the progression of the disease and investigate factors that shape it. It is not practical to anticipate all of the potential uses of the data, or all the types of analyses that will be performed to address user-defined questions.

Recruitment & Eligibility

Status
COMPLETED
Sex
All
Target Recruitment
344
Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Allow users to assess phenotypes of AMD5 years
Develop and evaluate potential markers and risk5 years
Develop and evaluate an AMD classification scheme(s)5 years
Assess the progression of the disease and investigate that shape it.5 years
Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (2)

National Institutes of Health Clinical Center, 9000 Rockville Pike

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Bethesda, Maryland, United States

University of Bonn

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Bonn, Germany

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