Actively Recruiting
Cell Collection to Study Eye Diseases
Led by National Eye Institute (NEI) · Updated on 2026-05-14
930
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Cell Collection to Study Eye Diseases
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Ability to understand and sign informed consent or have a legal guardian/representative do so
- Diagnosed with ocular conditions such as degenerative retinal diseases, optic atrophy, microphthalmia/anophthalmia, ciliopathy, or other related eye conditions, or be a healthy control matched by age, sex, and ethnicity
- Adult participants able to provide a punch skin biopsy and 30 mL of blood; child participants able to provide a punch skin biopsy and up to 5 mL/kg or 30 mL of blood
- Healthy children aged 7 years or older able to provide assent and one skin punch biopsy 3 mm or smaller
- Participants affected with ocular conditions must be at least 1 year old
- Participants with Best disease, L-ORD, or AMD must be 18 years or older
- Unaffected participants must be 7 years or older and able to assent
You will not qualify if you...
- Inability to comply with study procedures
- Systemic diseases that impair ability to provide adequate samples, such as bleeding disorders or genetic susceptibility to infections
- For clinical-grade cell line donors: history of blood disorders, recent antibiotic use, active or recent cancer, exposure to transfusion-transmitted diseases, travel to malaria-endemic areas, or risk of Creutzfeldt-Jakob disease
- Current fever above 38 degrees Celsius
- Low hemoglobin or hematocrit levels based on sex and ethnicity
- Low platelet count below 150 x 10^3/microL
- Low absolute neutrophil count below 1.0 x 10^3/microL
- Positive tests for blood-borne pathogens including HIV, hepatitis, syphilis, and others as per blood bank standards
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
N
Nancy Chen
CONTACT
F
Fnu Ruchi, Ph.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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