AMD Phenotype and Genotype Study
Condition: Age-Related Macular Degeneration; AMD
MeSH terms: Macular Degeneration
Study type: Observational

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.
    

Time perspective: Prospective
Keywords: Phenotype-Genotype correlation; Phenotype; Phenotypes; Age Related Macular Degeneration