RecruitingNCT01432847

Cell Collection to Study Eye Diseases

Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls


Sponsor

National Eye Institute (NEI)

Enrollment

930 participants

Start Date

Sep 7, 2011

Study Type

OBSERVATIONAL

Conditions

Summary

Background: \- Best Vitelliform Dystrophy (Best disease), Late-Onset Retinal Degeneration (L-ORD), and Age-Related Macular Degeneration (AMD) all affect the retina, the light sensing area at the back of the eye. Doctors cannot safely obtain retinal cells to study these diseases. However, cells collected from hair follicles, skin, saliva, urine, and blood can be used for research. Researchers want to collect cells from people with Best disease, L-ORD, and AMD, and compare their cells with those of healthy volunteers. Objectives: \- To collect hair, skin, saliva, urine, and/or blood samples to study three eye diseases that affect the retina: Best disease, L-ORD, and AMD. Eligibility: * Individuals affected with ocular condition is one year of age or older. * Individuals affected with Best disease, L-ORD, or AMD is 18 years of age or older. * Unaffected individuals are seven years of age or older. Design: * The study requires one visit to the National Eye Institute. * Participants will be screened with a medical and eye disease history. They may also have an eye exam. * Participants will provide a hair sample, saliva sample, urine sample, blood sample, and/or a skin biopsy. The hair will be collected from the back of the head, and the skin will be collected from the inside of the upper arm.


Eligibility

Min Age: 1 DayMax Age: 120 Years

Plain Language Summary

Simplified for easier understanding

This study collects skin biopsies and blood samples from people with inherited eye diseases — such as degenerative retinal conditions or developmental eye abnormalities — as well as from healthy matched controls. Samples are used to create cell lines for eye disease research. You may be eligible if: - You have been diagnosed with an ocular (eye) condition such as degenerative retinal disease, optic atrophy, or a developmental eye abnormality - You are a healthy person who can serve as a matched control (age, sex, and ethnicity must match a study participant with eye disease) - You are 1 year of age or older (adults only for clinical-grade cell line donation) - You are able to provide a skin biopsy and blood sample (or urine if unable) You may NOT be eligible if: - You are unable or unwilling to follow study procedures - You have a systemic disease that compromises your ability to provide safe samples (e.g., a bleeding disorder or severe infection risk) - For clinical-grade cell line donation: you have a history of cancer, HIV, hepatitis, blood disorders, recent antibiotic use, or recent travel to malaria-endemic regions Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(1)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

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NCT01432847


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