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 range

1 Day – 120 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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.

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1This study seems to focus on collecting my cells to create iPS cells and study them in the lab rather than giving me a treatment — so would participating in this trial actually change or add to my current care for my retinal disease in any way?
2Since this trial is listed as Phase NA, which suggests it's more of a laboratory research study than a treatment trial, what types of tissue would be collected from me, and are there any risks or discomforts involved in that collection process?
3The trial mentions studying conditions like AMD, retinitis pigmentosa, and retinal degeneration — given my specific diagnosis, how would my cells actually contribute to the research, and is there any chance the findings could eventually benefit my own treatment down the road?
4Because this study is about discovering future therapies rather than testing one right now, are there any existing standard treatments or other clinical trials that might address my condition more directly and that I should be considering at the same time?
5If my cells are used to create iPS cell lines and identify disease markers, what happens to those cells and any data linked to them after the study — and how is my privacy protected if researchers discover something significant about my genetic or molecular profile?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Discovery of therapeutic interventions for these ocular diseases

Timeframe: 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.

Timeframe: Duration of protocol

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

Timeframe: Duration of protocol

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

Timeframe: Duration of protocol

Trial details

NCT IDNCT01432847

SponsorNational Eye Institute (NEI)

Sponsor typeNIH

Study typeOBSERVATIONAL

Contact for this trial

Nancy Chen

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

View on ClinicalTrials.gov More Retinal Disease trials

Plain-language summary

Who can participate

Age range

1 Day – 120 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

Discovery of therapeutic interventions for these ocular diseases

Timeframe: 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.

Timeframe: Duration of protocol

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

Timeframe: Duration of protocol

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

Timeframe: Duration of protocol

Cell Collection to Study Eye Diseases

Plain-language summary

Who can participate

Inclusion criteria

Questions worth asking your doctor

Questions for the trial coordinator

What they're measuring

Trial details

Contact for this trial

Cell Collection to Study Eye Diseases

Plain-language summary

Who can participate

Inclusion criteria

Questions worth asking your doctor

Questions for the trial coordinator

What they're measuring

Trial details

Contact for this trial

Exclusion criteria