Cell Collection to Study Eye Diseases (NCT01432847) | Clinical Trial Compass
RecruitingNot Applicable
Cell Collection to Study Eye Diseases
United States930 participantsStarted 2011-09-07
Plain-language 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.
Who can participate
Age range1 Day – 120 Years
SexALL
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Inclusion criteria
✓. 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.
What they're measuring
1
Discovery of therapeutic interventions for these ocular diseases
Timeframe: Duration of protocol
2
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.
Timeframe: Duration of protocol
3
The differentiation of iPS cells into RPE, neural retinal cells and/or other ocular cells.
Timeframe: Duration of protocol
4
The creation of iPS cells from at least one of the three types of somatic tissues collected from each participant.
✓. 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.
Exclusion criteria
✕. 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.
✕. 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: