Cell Collection to Study Eye Diseases

NCT01432847 | Recruiting

• 2 other identifiers: 11024511-EI-0245
• Study Type: observational
• Target: 930
• Locations: 1 country
• Sites: 1

Brief 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.

Conditions

Retinal Disease; AMD; Retinal Degeneration; Retinitis Pigmentosa

Keywords

Best Disease; Late-Onset Retinal Degeneration (L-ORD); Age-Related Macular Degeneration (AMD); Natural History; Retinal Degeneration; Age-Related Macular Degeneration; AMD

Outcome Measures

Primary Outcomes (4)

• Discovery of therapeutic interventions for these ocular diseases

  The participant-specific ocular cells will be used to perform high throughput drug screens to identify novel potential therapeutic compounds.

  Duration of protocol

• The identification of molecular and physiological phenotypes in these cells that may be linked to the onset or progression of the ocular conditions being studied.

  The differentiated cells will be used to elucidate molecular pathways that have led to disease pathogenesis.

  Duration of protocol

• The differentiation of iPS cells into RPE, neural retinal cells and/or other ocular cells.

  The iPS cells will be differentiated into RPE, neural retinal and/or other ocular cells.

  Duration of protocol

• The creation of iPS cells from at least one of the three types of somatic tissues collected from each participant.

  This study will establish a repository of fibroblasts, keratinocytes, and/or blood cells collected from participants with eye diseases and from matched controls without any eye diseases. The somatic cell repository will be used to generate iPS cells.

  Duration of protocol

Study Arms (2)

Affected

Participants affected by ocular diseases/conditions.

Healthy Volunteers

Age, sex, and ethnicity-matched to participants with ocular conditions or the unaffected relatives of participants with ocular conditions

Eligibility Criteria

• Age: 1 Day - 120 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

465 participants with ocular conditions and 465 participants without any ocular disease

You may qualify if:

• Have the ability to understand and sign an informed consent or have a parent/legal guardian to do so if they are minor children or have a legally authorized representative if they are adults without consent capacity.
• Participant meets one of the following criteria:
• Participant has been diagnosed with an ocular condition of interest including but not limited to: degenerative retinal diseases, optic atrophy, microphthalmia/anophthalmia, ciliopathy, and other ocular developmental or degenerative conditions.
• Participant is free of eye diseases and could serve as an unaffected control. Participant's age, sex, and ethnicity must match an existing participant with one of the eye diseases under study. Control participants matched to AMD participants must not have drusen greater than 63 microns in size.
• Adult participant is able to provide a punch skin biopsy and 30 mL of peripheral venous blood OR child participant is able to provide a punch skin biopsy and the lesser of 5 mL/kg or 30 mL of peripheral venous blood. Healthy, unaffected children will only have one skin punch biopsy done 3mm or less in size. In affected participants, an additional punch may be gathered if the initial sample does not contain adequate cells. This will be taken from children ages seven years and older. Sampling of ten occipital hairs and/or saliva may be pursued at the investigator's discretion. Participants not able to provide a skin biopsy or blood sample may opt to provide 100-200 ml of fresh urine. As a rule, samples will be collected on non-sedated/anesthetized participants. Sedation/anesthesia will NOT be used solely for the purpose of sample collection. In rare instances where a minor requires sedation for another medically indicated procedure, samples may be collected at the time of sedation/anesthesia. Because young children may not be able to cooperate with sample collection, those unable to provide a skin biopsy, urine sample or a blood sample may be excluded from the study, based on the judgment of the examining investigator.
• Participant meets one of the following criteria:
• Participant affected with an ocular condition is one year of age or older.
• Participant affected with Best disease, L-ORD, or AMD is 18 years of age or older.
• Unaffected participant is seven years of age or older and willing and able to provide assent.

You may not qualify if:

• Participant is unable to comply with study procedures.
• Participant has a systemic disease that, in the opinion of the investigator, compromises the ability to provide adequate samples. Examples of co-existing diseases that would exclude a participant include a bleeding diathesis or a genetic susceptibility to infections, particularly cutaneous infections.
• ADDITIONAL CRITERIA FOR CLNICAL-GRADE CELL LINE GENERATION:
• The additional eligibility criteria must be met for participants donating samples for the generation of clinical-grade cell lines.
• Participant must be greater than 18 years of age, as of the date of enrollment. There is no upper age limit for donor enrollment.
• Participant is able to provide a punch skin biopsy and 200 ml of peripheral venous blood.
• Participant is willing and eligible to co-enroll in NEI protocol 15-EI-0128.
• Participant has medical history that includes any of the following:
• Thrombocytopenia or other blood dyscrasias
• Bleeding diathesis
• Antibiotic use within the prior 48 hours
• Active cancer or history of cancer within the past five years
• History of exposure to transfusion transmitted diseases including HIV and hepatitis B and C as defined by the Standards for Blood
• Banking and Transfusion Services, American Association of Blood Banks.
• Travel to an area where malaria is endemic as defined by the CDC (www.cdc.gov/travel)

Sponsors & Collaborators

• National Eye Institute (NEI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Publications (30)

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Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Retinal Diseases; Retinal Degeneration; Retinitis Pigmentosa; Vitelliform Macular Dystrophy; Late-Onset Retinal Degeneration; Macular Degeneration

Condition Hierarchy (Ancestors)

Eye Diseases; Eye Diseases, Hereditary; Retinal Dystrophies; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Fnu Ruchi, Ph.D.

  National Eye Institute (NEI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Nancy Chen

CONTACT

(240) 551-7020; nancy.chen@nih.gov

Fnu Ruchi, Ph.D.

CONTACT

(301) 451-3081; fnu.ruchi2@nih.gov

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 10, 2011
• First Posted: September 13, 2011
• Study Start: September 7, 2011
• Last Updated: April 8, 2026

Record last verified: 2026-03-11

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)