NEI releases complete data from age-related eye disease study

Nov 10 2008

The National Eye Institute (NEI), part of the National Institutes of Health (NIH), announces the release of more than 10 years of data collected during the Age-Related Eye Disease Study (AREDS), which looked at the progression of age-related macular degeneration and age-related cataract in 4,757 adults aged 55 to 80.

Researchers around the world can apply for access to this complete set of medical history records and clinical trial results as well as select genetic information to gain a better understanding of two complicated vision conditions that affect aging adults.

"This vast pool of data is now at the fingertips of scientists, which is an unprecedented occurrence in the field of ophthalmology," said Frederick L. Ferris III, M.D., clinical director of the NEI. "Now that the entire AREDS database is available to the global research community, we hope that researchers will be inspired to delve more deeply into analyzing the genetic and environmental factors involved in the onset and progression of age-related macular degeneration and age-related cataract."

The AREDS data are accessible through the online database of Genotypes and Phenotypes, known as dbGaP, which archives and distributes data from studies that explore the relationships between genetic variations (genotypes) and observable traits (phenotypes).

The NEI-supported AREDS was one of two studies included in the December 2006 launch of dbGaP. The National Library of Medicine's National Center for Biotechnology Information (NCBI) created and operates dbGaP, which includes two levels of access. Study descriptions and documents such as protocols can be found in the public, open-access section. In the controlled-access section, approved researchers can view genotype and phenotype data from individual AREDS participants, though the information is coded to protect patients' identities.

The first version of controlled-access AREDS data became available through dbGaP in June 2007. It included selected phenotypic data and information gathered from a genome-wide scan of DNA samples collected from 600 AREDS participants.

The updated version now incorporates the complete information obtained from all 4,757 AREDS participants during trial enrollment and follow-up visits, including data from photographs of the patients' eyes and information regarding their nutritional intake, quality of life, and rates of illness and death.

"Providing this new set of AREDS data through dbGaP will benefit researchers worldwide who are investigating genetic factors in age-related macular degeneration and other conditions," said David Lipman, M.D., director of the NCBI. "AREDS was one of two founding studies in dbGaP, and its availability over the last year and a half has enabled many research teams to conduct their own analyses of these important data. We are delighted to have received, and to make available, this even more extensive set of data, further enhancing the possibilities for research and discovery."

AREDS began in 1992 as a long-term, multi-center, prospective study designed to evaluate the progression of age-related macular degeneration and age-related cataract. Participants were also enrolled in a clinical trial of high-dose vitamin and mineral supplements. They were followed for a median of 6.5 years during the trial and an additional five years after the trial's conclusion.

In addition, DNA was isolated from blood samples taken from more than 3,700 AREDS participants beginning in 1998. DNA from many of these participants is currently being stored in the NEI-AREDS Genetic Repository. Access to these DNA samples for research purposes is available for a fee through the Coriell Institute for Medical Research at http://ccr.coriell.org/Sections/Collections/AREDS/?SsId=68.

"Genetic testing has become crucial in the advancement of science, both for understanding the progression of diseases and for determining appropriate research directions for treatments," said Paul A. Sieving, M.D., Ph.D., director of the NEI. "With the AREDS data available through dbGaP, vision researchers can continue to identify genetic factors that may play a role in eye conditions such as age-related macular degeneration and cataract."

The public, open-access AREDS data can be viewed on the dbGaP website at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000001.v2.p1. Researchers can find a link to the application for controlled access to individual-level data on the same site.

More information about AREDS (NCT00000145) can be found at www.clinicaltrials.gov.