Retinal DiseaseNCT01432847
Cell Collection to Study Eye Diseases
An observational study of Retinal Disease and AMD, run by National Eye Institute (NEI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages 1 day to 120 yearsHealthy volunteers can take part
- Conditions the study is for
- Retinal Disease, AMD, Retinal Degeneration
- How many people
- 930 participants
- Where
- 1 siteUnited States
- Study dates
- 7 Sep 2011to not given
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 day to 120 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: 465 participants with ocular conditions and 465 participants without any ocular disease
Who may be able to join
- To be eligible, participants must meet the following 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.
Show all 13Show fewer
- 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.
- 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.
Who cannot join
- A participant is not eligible if any of the following exclusion criteria are present.
- 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 has medical history that includes any of the following:
Show all 26Show fewer
- 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)
- At risk for the possible transmission of Creuzefeldt-Jackob Disease (CJD) and Variant Creuzefeldt-Jackob Disease (vCJD) as described in the FDA Guidance for Industry, January 9, 2002, "Revised Preventive Measures to Reduce the Possible Risk of Transfusion of Creuzefeldt-Jackob Disease (CJD) and Variant Creuzefeldt-Jackob Disease (vCJD) by Blood and Blood Products"
- Participant is currently febrile (temperature > 38 degrees C)
- Participant has Hemoglobin level:
- African American women <11.5 grams/dL
- Other women < 12.0 grams/dL
- Men <12.5 grams/dL
- Participant has low hematocrit (HCT):
- African American women < 34%
- Other women <36%
- Men <38%
- Participant has Platelets <150 x 103/microL
- Participant has Absolute neutrophil count <1.0 x 103/microL.
- Participant has positive tests for blood borne pathogens (as required by the Standards for Blood Banks and Transfusion Services, American Association of Blood Banks. The currently required tests include anti-HIV1/2, anti-HCV, anti-HBc, Anti-HTLV I/II, anti-T. Cruzi, HBsAg, syphilis, and molecular testing for West Nile virus, HCV, HBV, and HIV-1).
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
National Institutes of Health Clinical Center
Bethesda, Maryland, 20892
Nancy Chen, B.S., 240-551-7020, nancy.chen@nih.gov
About this study
Official title: Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls
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.
Read more
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.
Read the detailed description
This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for potentially blinding eye diseases including but not limited to: Best Vitelliform Dystrophy (Best Disease); Late-Onset Retinal Degeneration (L-ORD); Age-Related Macular Degeneration (AMD); Leber congenital amaurosis (LCA); Joubert syndrome; X-linked retinitis pigmentosa (RP); oculocutaneous albinism; Stargardt s with ABCA4 gene mutations; Waardenburg syndrome, coloboma, Enhanced S-Cone syndrome (ESCS), Spinocerebellar Ataxia, Type 7 (SCA7) and eye diseases associated with MITF, PAX2, or PAX6 gene mutations. Skin fibroblasts, saliva, hair keratinocytes, urine, and/or blood cells may be collected from participants with retinal diseases and from age, sex, and ethnicity-matched healthy participants.
Although research involving multiple different ocular cell types from these patients may be performed, the vast majority of the work will be centered on the retinal pigment epithelium (RPE) and neural retina. RPE and/or neural retinal cells generated from the iPS cells of participants with retinal diseases and healthy volunteers will be used to analyze molecular mechanisms involved in disease initiation and progression. In addition, the iPS cell-derived ocular cells will be used to perform high throughput (HTP) drug screens aimed at suppressing the molecular phenotypes of the disease and to identify potential therapeutic agents for these diseases.
Objectives: The primary objective of this study is to generate participant-iPS cells that can be differentiated into ocular cell types, to be used to study the molecular mechanisms of and to develop treatments for ocular conditions. This objective will be carried out in three phases. First, this study will establish a repository of fibroblasts, keratinocytes, urine-derived cells and/or blood cells collected from participants with eye diseases and from matched controls without any eye diseases. Second, the somatic cell repository will be used to generate iPS cells, which will be differentiated into RPE, neural retinal and/or other ocular cells. These cells will be used to elucidate molecular pathways that have led to disease pathogenesis. In the third phase, the participant-specific ocular cells will be used to perform high throughput drug screens to identify novel potential therapeutic compounds. The cells obtained in this protocol may be genetically modified, may be transplanted into animals in the laboratory, and, if used in the development of cell-based therapies, may be transplanted into humans. Transplantation into humans will be done as a part of a different study.
Study Population: We plan to recruit 465 participants with ocular conditions including but not limited to: degenerative retinal diseases, optic atrophy, microphthalmia/anophthalmia, ciliopathy, and other ocular developmental or degenerative conditions, and 465 healthy volunteers without any eye disease. If possible, unaffected siblings and relatives of participants with eye diseases will be included as healthy volunteers.
Design: In this basic science, research-oriented study, skin, saliva, hair, urine, and/or blood samples may be collected from affected participants with the eye diseases and/or genetic mutations under study, and from control participants matched for age, sex, and ethnicity. The sample collection procedures will incur only minimal risk to adult participants. This study will typically require only one visit by each participant. Participants may be requested to return if their initial sample(s) did not produce adequate cells for study in the laboratory. Participants who were previously enrolled to provide samples for research-grade iPS cell generation may return for an additional visit to provide samples for clinical-grade iPS cell generation, if eligible. The skin fibroblast, keratinocyte, urine-derived cells and/or blood samples will then be used to generate participant-specific iPS cells, and these cells will then be differentiated into RPE, neural retinal and/or other ocular cell types. iPS cells may not be made from all samples. The investigators will use the samples for research studies aimed at identifying molecular and signaling pathways underlying disease onset and progression and for developing potential therapeutic treatments for the eye diseases under study.
Outcome Measures: The outcome measures for this study include the creation of iPS cells from at least one of the three types of somatic tissues collected from each participant, the differentiation of iPS cells into RPE, neural retinal cells and/or other ocular cells, and 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. This analysis may lead to the discovery of therapeutic interventions for these diseases. There are no specific participant-based clinical outcomes for this protocol. Participants will, in general, be seen only once for this protocol. In rare cases, participants may be requested to return to the clinic if their initial sample(s) did not produce adequate cells for study in the laboratory.
- 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
- Medical subject headings
- Retinal Diseases, Retinal Degeneration, Retinitis Pigmentosa, Vitelliform Macular Dystrophy, Late-Onset Retinal Degeneration, Macular Degeneration
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: Duration of protocol
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Sep 2011 (estimated)
- Study start7 Sep 2011
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (30)Papers the sponsor has linked to this study.
- Other trials for Retinal DiseaseStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 930 participants (estimated)
Sponsor and investigators
- Lead sponsor
- National Eye Institute (NEI)
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Fnu Ruchi, Ph.D., Principal investigator, National Eye Institute (NEI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01432847
- Sponsor's protocol ID
- 110245
- Other IDs
- 11-EI-0245
- Status last verified
- 11 Sep 2026
- First submitted
- 10 Sep 2011
- Last updated
- 22 Sep 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Bharti K, Miller SS, Arnheiter H. The new paradigm: retinal pigment epithelium cells generated from embryonic or induced pluripotent stem cells. Pigment Cell Melanoma Res. 2011 Feb;24(1):21-34. doi: 10.1111/j.1755-148X.2010.00772.x. Epub 2010 Oct 7.
PubMed 20846177Stadtfeld M, Hochedlinger K. Induced pluripotency: history, mechanisms, and applications. Genes Dev. 2010 Oct 15;24(20):2239-63. doi: 10.1101/gad.1963910.
PubMed 20952534Wu SM, Hochedlinger K. Harnessing the potential of induced pluripotent stem cells for regenerative medicine. Nat Cell Biol. 2011 May;13(5):497-505. doi: 10.1038/ncb0511-497.
PubMed 21540845Hankowski KE, Hamazaki T, Umezawa A, Terada N. Induced pluripotent stem cells as a next-generation biomedical interface. Lab Invest. 2011 Jul;91(7):972-7. doi: 10.1038/labinvest.2011.85. Epub 2011 May 9.
PubMed 21555998Jin ZB, Okamoto S, Osakada F, Homma K, Assawachananont J, Hirami Y, Iwata T, Takahashi M. Modeling retinal degeneration using patient-specific induced pluripotent stem cells. PLoS One. 2011 Feb 10;6(2):e17084. doi: 10.1371/journal.pone.0017084.
PubMed 21347327Xiao Q, Hartzell HC, Yu K. Bestrophins and retinopathies. Pflugers Arch. 2010 Jul;460(2):559-69. doi: 10.1007/s00424-010-0821-5. Epub 2010 Mar 28.
PubMed 20349192Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT. Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev. 2008 Apr;88(2):639-72. doi: 10.1152/physrev.00022.2007.
PubMed 18391176Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3363-71. doi: 10.1167/iovs.05-0159.
PubMed 16123441Chavali VR, Khan NW, Cukras CA, Bartsch DU, Jablonski MM, Ayyagari R. A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration. Hum Mol Genet. 2011 May 15;20(10):2000-14. doi: 10.1093/hmg/ddr080. Epub 2011 Feb 24.
PubMed 21349921Swaroop A, Chew EY, Rickman CB, Abecasis GR. Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet. 2009;10:19-43. doi: 10.1146/annurev.genom.9.081307.164350.
PubMed 19405847Zarbin MA, Rosenfeld PJ. Pathway-based therapies for age-related macular degeneration: an integrated survey of emerging treatment alternatives. Retina. 2010 Oct;30(9):1350-67. doi: 10.1097/IAE.0b013e3181f57e30.
PubMed 20924259Adams NA, Awadein A, Toma HS. The retinal ciliopathies. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424.
PubMed 17896309Coppieters F, Lefever S, Leroy BP, De Baere E. CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337.
PubMed 20690115den Hollander AI, Roepman R, Koenekoop RK, Cremers FP. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1.
PubMed 18632300Meyer JS, Shearer RL, Capowski EE, Wright LS, Wallace KA, McMillan EL, Zhang SC, Gamm DM. Modeling early retinal development with human embryonic and induced pluripotent stem cells. Proc Natl Acad Sci U S A. 2009 Sep 29;106(39):16698-703. doi: 10.1073/pnas.0905245106. Epub 2009 Aug 25.
PubMed 19706890
Study at a glance
From the registry record, last updated by the sponsor on 22 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls
- ClinicalTrials.gov ID
- NCT01432847
- Acronym / sponsor ID
- 110245
- 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
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 930 participants (estimated)
- Lead sponsor
- National Eye Institute (NEI)US National Institutes of Health
- Study start
- 7 Sep 2011 (actual)
- First posted
- 13 Sep 2011 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for potentially blinding eye diseases including but not limited to: Best Vitelliform Dystrophy (Best Disease); Late-Onset Retinal Degeneration (L-ORD); Age-Related Macular Degeneration (AMD); Leber congenital amaurosis (LCA); Joubert syndrome; X-linked retinitis pigmentosa (RP); oculocutaneous albinism; Stargardt s with ABCA4 gene mutations; Waardenburg syndrome, coloboma, Enhanced S-Cone syndrome (ESCS), Spinocerebellar Ataxia, Type 7 (SCA7) and eye diseases associated with MITF, PAX2, or PAX6 gene mutations. Skin fibroblasts, saliva, hair keratinocytes, urine, and/or blood cells may be collected from participants with retinal diseases and from age, sex, and ethnicity-matched healthy participants.
Although research involving multiple different ocular cell types from these patients may be performed, the vast majority of the work will be centered on the retinal pigment epithelium (RPE) and neural retina. RPE and/or neural retinal cells generated from the iPS cells of participants with retinal diseases and healthy volunteers will be used to analyze molecular mechanisms involved in disease initiation and progression. In addition, the iPS cell-derived ocular cells will be used to perform high throughput (HTP) drug screens aimed at suppressing the molecular phenotypes of the disease and to identify potential therapeutic agents for these diseases.
Objectives: The primary objective of this study is to generate participant-iPS cells that can be differentiated into ocular cell types, to be used to study the molecular mechanisms of and to develop treatments for ocular conditions. This objective will be carried out in three phases. First, this study will establish a repository of fibroblasts, keratinocytes, urine-derived cells and/or blood cells collected from participants with eye diseases and from matched controls without any eye diseases. Second, the somatic cell repository will be used to generate iPS cells, which will be differentiated into RPE, neural retinal and/or other ocular cells. These cells will be used to elucidate molecular pathways that have led to disease pathogenesis. In the third phase, the participant-specific ocular cells will be used to perform high throughput drug screens to identify novel potential therapeutic compounds. The cells obtained in this protocol may be genetically modified, may be transplanted into animals in the laboratory, and, if used in the development of cell-based therapies, may be transplanted into humans. Transplantation into humans will be done as a part of a different study.
Study Population: We plan to recruit 465 participants with ocular conditions including but not limited to: degenerative retinal diseases, optic atrophy, microphthalmia/anophthalmia, ciliopathy, and other ocular developmental or degenerative conditions, and 465 healthy volunteers without any eye disease. If possible, unaffected siblings and relatives of participants with eye diseases will be included as healthy volunteers.
Design: In this basic science, research-oriented study, skin, saliva, hair, urine, and/or blood samples may be collected from affected participants with the eye diseases and/or genetic mutations under study, and from control participants matched for age, sex, and ethnicity. The sample collection procedures will incur only minimal risk to adult participants. This study will typically require only one visit by each participant. Participants may be requested to return if their initial sample(s) did not produce adequate cells for study in the laboratory. Participants who were previously enrolled to provide samples for research-grade iPS cell generation may return for an additional visit to provide samples for clinical-grade iPS cell generation, if eligible. The skin fibroblast, keratinocyte, urine-derived cells and/or blood samples will then be used to generate participant-specific iPS cells, and these cells will then be differentiated into RPE, neural retinal and/or other ocular cell types. iPS cells may not be made from all samples. The investigators will use the samples for research studies aimed at identifying molecular and signaling pathways underlying disease onset and progression and for developing potential therapeutic treatments for the eye diseases under study.
Outcome Measures: The outcome measures for this study include the creation of iPS cells from at least one of the three types of somatic tissues collected from each participant, the differentiation of iPS cells into RPE, neural retinal cells and/or other ocular cells, and 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. This analysis may lead to the discovery of therapeutic interventions for these diseases. There are no specific participant-based clinical outcomes for this protocol. Participants will, in general, be seen only once for this protocol. In rare cases, participants may be requested to return to the clinic if their initial sample(s) did not produce adequate cells for study in the laboratory.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 |
Who may qualify
- Ages
- 1 day to 120 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- 465 participants with ocular conditions and 465 participants without any ocular disease
Key inclusion criteria (13 listed)
- To be eligible, participants must meet the following 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:
- 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:
Key exclusion criteria (26 listed)
- A participant is not eligible if any of the following exclusion criteria are present.
- 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.
- The additional eligibility criteria must be met for participants donating samples for the generation of clinical-grade cell lines.
- Participant has medical history that includes any of the following:
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Discovery of therapeutic interventions for these ocular diseases
Time frame: Duration of protocol
The participant-specific ocular cells will be used to perform high throughput drug screens to identify novel potential therapeutic compounds.
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.
Time frame: Duration of protocol
The differentiated cells will be used to elucidate molecular pathways that have led to disease pathogenesis.
The differentiation of iPS cells into RPE, neural retinal cells and/or other ocular cells.
Time frame: Duration of protocol
The iPS cells will be differentiated into RPE, neural retinal and/or other ocular cells.
The creation of iPS cells from at least one of the three types of somatic tissues collected from each participant.
Time frame: Duration of protocol
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Sep 2026.
- Background: PubMed 20846177Bharti K, Miller SS, Arnheiter H. The new paradigm: retinal pigment epithelium cells generated from embryonic or induced pluripotent stem cells. Pigment Cell Melanoma Res. 2011 Feb;24(1):21-34. doi: 10.1111/j.1755-148X.2010.00772.x. Epub 2010 Oct 7.
- Background: PubMed 20952534Stadtfeld M, Hochedlinger K. Induced pluripotency: history, mechanisms, and applications. Genes Dev. 2010 Oct 15;24(20):2239-63. doi: 10.1101/gad.1963910.
- Background: PubMed 21540845Wu SM, Hochedlinger K. Harnessing the potential of induced pluripotent stem cells for regenerative medicine. Nat Cell Biol. 2011 May;13(5):497-505. doi: 10.1038/ncb0511-497.
- Background: PubMed 21555998Hankowski KE, Hamazaki T, Umezawa A, Terada N. Induced pluripotent stem cells as a next-generation biomedical interface. Lab Invest. 2011 Jul;91(7):972-7. doi: 10.1038/labinvest.2011.85. Epub 2011 May 9.
- Background: PubMed 21347327Jin ZB, Okamoto S, Osakada F, Homma K, Assawachananont J, Hirami Y, Iwata T, Takahashi M. Modeling retinal degeneration using patient-specific induced pluripotent stem cells. PLoS One. 2011 Feb 10;6(2):e17084. doi: 10.1371/journal.pone.0017084.
- Background: PubMed 20349192Xiao Q, Hartzell HC, Yu K. Bestrophins and retinopathies. Pflugers Arch. 2010 Jul;460(2):559-69. doi: 10.1007/s00424-010-0821-5. Epub 2010 Mar 28.
- Background: PubMed 18391176Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT. Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev. 2008 Apr;88(2):639-72. doi: 10.1152/physrev.00022.2007.
- Background: PubMed 16123441Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3363-71. doi: 10.1167/iovs.05-0159.
- Background: PubMed 21349921Chavali VR, Khan NW, Cukras CA, Bartsch DU, Jablonski MM, Ayyagari R. A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration. Hum Mol Genet. 2011 May 15;20(10):2000-14. doi: 10.1093/hmg/ddr080. Epub 2011 Feb 24.
- Background: PubMed 19405847Swaroop A, Chew EY, Rickman CB, Abecasis GR. Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet. 2009;10:19-43. doi: 10.1146/annurev.genom.9.081307.164350.
- Background: PubMed 20924259Zarbin MA, Rosenfeld PJ. Pathway-based therapies for age-related macular degeneration: an integrated survey of emerging treatment alternatives. Retina. 2010 Oct;30(9):1350-67. doi: 10.1097/IAE.0b013e3181f57e30.
- Background: PubMed 17896309Adams NA, Awadein A, Toma HS. The retinal ciliopathies. Ophthalmic Genet. 2007 Sep;28(3):113-25. doi: 10.1080/13816810701537424.
- NIH Clinical Center Detailed Web PageLink provided by the sponsor.
- Individual participant dataSharing planned: No
Related trials for Retinal Disease
RecruitingObservational study
Adaptive Optics Retinal Imaging
Eye Diseases, Healthy Volunteers
RecruitingObservational study
National Eye Institute Biorepository for Retinal Diseases
Age-Related Macular Degeneration, Diabetic Retinopathy
Active, not recruitingObservational study
Natural History of Eye Diseases Related to ABCA4 Mutations
Retinal Degeneration, ABCA4-Related Retinopathies
Active, not recruitingPhase 3
4D-150 in Patients With Macular Neovascularization Secondary to Age-Related Macular Degeneration
Macular Neovascularization Secondary to Age-Related Macular Degeneration
RecruitingObservational study
Human iPSC for Repair of Vasodegenerative Vessels in Diabetic Retinopathy
Diabetes Complications, Diabetic Retinopathy
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Fnu Ruchi, Ph.D. principal investigator
National Eye Institute (NEI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Retinal Disease and AMD, run by National Eye Institute (NEI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 13 inclusion and 26 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 22 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Nancy Chen ((301) 435-1831, nancy.chen@nih.gov), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Discovery of therapeutic interventions for these ocular diseases (time frame: Duration of protocol). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT01432847, which also lists 30 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Sep 2026.