Genetic Study of Age-Related Macular Degeneration

Completed

• Conditions: Age-Related Macular Degeneration

• Registration Number: NCT00357578
• Lead Sponsor: National Eye Institute (NEI)

Brief Summary

This study will examine skin and blood cells for genetic changes related to the development of age-related macular degeneration, an eye disease that can significantly impair the ability to read, drive, and carry out daily activities. It is the most common cause of vision loss in people over the age of 50.

People with age-related macular degeneration and healthy normal volunteers age 50 years or older may be eligible for this study. Candidates will undergo a medical history, physical examination and eye examination with dilation of the pupils. Photographs of the eye will be taken with a special camera.

Study participants will have blood drawn three times (no more than 6 tablespoons each time) and will undergo three skin biopsies. For the skin biopsy, an anesthetic is injected under the skin and a small piece of skin-approximately 1/4-inch cube-is removed. The blood draws and biopsies will be done at 7- to 10-day intervals. In most cases, a single biopsy is done at each visit, but it may be necessary to take-at most-one additional biopsy from the other arm during the same visit. Patients will return for one follow-up visit 7 to 10 days after the last biopsy for examination of the biopsy site and removal of any stitches.

The results of this study may provide investigators information needed to develop new means of diagnosing and treating age-related macular degeneration.

Detailed Description

Age-related macular degeneration (AMD) represents the most common cause of blindness in patients over the age of 50. While both hereditary and environmental factors appear to play a role in the pathogenesis of the disease, no common genetic mutations have been identified. This pilot study is intended to test the feasibility of evaluating the patterns of expression of genes that may be involved in the pathogenesis of AMD. The genes of interest are involved in the process of wound repair, cell injury and cell death. We hope to access the expression of these genes, but in tissues taken from non-ocular sites, in patients with AMD and in patients without AMD.

Biopsied skin fibroblasts and circulating monocytes from 62 patients will be obtained; 14 without AMD, 14 with at least one large (greater than 125 microns) druse, with geographic atrophy and/or choroidal neovascularization from AMD, 10 with geographic atrophy only, and 20 with choroidal neovascularization and/or disciform scar. The gene expression patterns from these tissues will be examined through various techniques including polymerase chain reaction, Northern blot analysis, differential display and microarray technology. The genetic expression patterns in patients with AMD will then be compared to age-matched control subjects. The primary outcome will be to determine the feasibility of obtaining skin and monocyte samples from patients with AMD, extracting RNA from these samples, and studying gene expression patterns. This study will provide investigators with information needed to develop subsequent studies of potential diagnostic tests.

Study Timeline

• Study Start: 2000-04-14
• Study First Submitted: 2006-07-26
• Study First Submitted QC: 2006-07-26
• Study First Posted: 2006-07-27
• Status Verified: 2007-09-19
• Study Completion: 2007-09-19
• Last Update Submitted: 2017-06-30
• Last Update Posted: 2017-07-02

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 150

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Trial Locations

Locations (1)

National Institutes of Health Clinical Center, 9000 Rockville Pike; 🇺🇸 Bethesda, Maryland, United States