Recruiting

Studying eye disease cells to find new treatments

Plain-English translation of NCT01432847 on ClinicalTrials.gov ↗ · Source last updated September 2026 · Translation generated October 2026 · How we translate trials

What is this trial?

Researchers are collecting small skin biopsies and blood samples from people with inherited retinal diseases—like age-related macular degeneration, retinitis pigmentosa, and other conditions that cause progressive vision loss—as well as from healthy matched volunteers. These samples will be used to create special laboratory cells called induced pluripotent stem cells, which can be grown into eye cells in the lab. Scientists will then study these cells to understand why these diseases happen and to test drugs that might slow or stop vision loss.

Many inherited eye diseases damage the retina and cause blindness, but we still don't fully understand the underlying causes. By studying cells from people who actually have these diseases, researchers hope to discover how they develop and identify new medicines that could help prevent or treat them.

Do you qualify?

You likely qualify if…

you have been diagnosed with an inherited eye disease such as age-related macular degeneration, retinitis pigmentosa, or other retinal conditions
you are healthy with no history of eye disease and match the age, sex, and ethnicity of a participant with an eye condition
you are able to provide a small skin biopsy and blood sample (or urine as an alternative)
you are at least one year old if you have an eye disease, or at least seven years old if you are a healthy volunteer
you can understand the study and sign a consent form, or have a parent or legal guardian who can do so

You likely don't qualify if…

you have a bleeding disorder or are at high risk for skin infections that would make skin sampling unsafe
you have a serious systemic disease that would prevent you from safely providing adequate tissue samples
you are unable to follow study procedures or cooperate with sample collection
you are a child under seven years old who cannot provide a skin biopsy, blood sample, or urine sample

What participation looks like

If you join this study, you will visit the clinic once to have a small skin biopsy taken (a punch about the size of a pencil eraser) and provide a blood sample of about 30 milliliters (roughly 2 tablespoons). If you cannot provide blood or skin samples, you may instead provide a urine sample. The researchers will then use these cells to grow eye cells in the laboratory and study them over time. There are no ongoing visits or follow-up appointments required after your initial sample collection.

AI-generated summary from trial data · Oct 5, 2026 · Not medical advice

Trial locations(1 site)

United States

National Institutes of Health Clinical Center, Bethesda, Maryland