AMD Phenotype and Genotype Study

NCT01778491 | Completed

• 2 other identifiers: 13002713-EI-0027
• Study Type: observational
• Target: 344
• Locations: 2 countries
• Sites: 2

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.

Conditions

Age-Related Macular Degeneration; AMD

Keywords

Phenotype-Genotype correlation; Phenotype; Phenotypes; Age Related Macular Degeneration

Outcome Measures

Primary Outcomes (4)

• Allow users to assess phenotypes of AMD

  5 years

• Develop and evaluate potential markers and risk

  5 years

• Develop and evaluate an AMD classification scheme(s)

  5 years

• Assess the progression of the disease and investigate that shape it.

  5 years

Eligibility Criteria

• Age: 60 Years - 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• Male or female participants must fall into any of the following categories:
• No drusen or any AMD-associated pigment abnormalities (no apparent aging changes)
• Small drusen (less than or equal to 63 micro millimeters in diameter) and the absence of AMD-associated pigment abnormalities in either eye (normal aging changes)
• Medium (\>63 (Micro)m and less than or equal to 125 micro millimeters in diameter) drusen in either eye (Early AMD)
• Large (\>125 (Micro)m in diameter) drusen with or without pigmentary abnormalities in either eye (Intermediate AMD)
• Neovascular AMD in only one eye or the presence of geographic atrophy in either eye but with vision \>20/60 in the better-seeing eye (Late AMD)
• Presence of reticular Drusen in either eye
• AMD classification will be based on clinical evaluation.
• years of age or older
• Ability to provide written informed consent and comply with study assessments for the full duration of the study
• Retinal photographs of sufficient quality to allow assessment of the macular area for AMD lesions including drusen

You may not qualify if:

• Presence of lens or vitreous opacity in eye(s) with AMD to preclude adequate ophthalmic imaging
• Presence of ocular conditions that may now or in the future complicate the evaluation of AMD \[e.g., vascular occlusion, diabetic retinopathy (\>4 microaneurysms), etc.\] in the eye(s) with AMD
• High myopia -6 Diopters or more severe
• Diagnosis of nystagmus
• Glaucoma with definite visual field defects. Participants with a history of the diagnosis of glaucoma, past or present use of medications to control intraocular pressure, or disc/nerve fiber layer defects suggestive of glaucoma can be eligible for the study if they have a documented normal Goldmann, Humphrey, or Octopus perimetry test within 6 months prior to qualification.

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (2)

National Institutes of Health Clinical Center, 9000 Rockville Pike

Bethesda, Maryland, 20892, United States

Location

University of Bonn

Bonn, Germany

Location

Related Publications (2)

• Kini MM, Leibowitz HM, Colton T, Nickerson RJ, Ganley J, Dawber TR. Prevalence of senile cataract, diabetic retinopathy, senile macular degeneration, and open-angle glaucoma in the Framingham eye study. Am J Ophthalmol. 1978 Jan;85(1):28-34. doi: 10.1016/s0002-9394(14)76661-9.

  PMID: 619683 BACKGROUND

• Smiddy WE, Fine SL. Prognosis of patients with bilateral macular drusen. Ophthalmology. 1984 Mar;91(3):271-7. doi: 10.1016/s0161-6420(84)34309-3.

  PMID: 6201789 BACKGROUND

MeSH Terms

Conditions

Macular Degeneration

Condition Hierarchy (Ancestors)

Retinal Degeneration; Retinal Diseases; Eye Diseases

Study Officials

• Emily Y Chew, M.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 26, 2013
• First Posted: January 29, 2013
• Study Start: November 5, 2012
• Primary Completion: September 29, 2015
• Study Completion: September 29, 2015
• Last Updated: April 5, 2018

Record last verified: 2015-09-29

Locations

US (1); DE (1)