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Protocol Details

Generation of Induced Pluripotent Stem (iPS) Cell Lines from Somatic Cells of Participants with Eye Diseases and from Somatic Cells of Matched Controls

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts




Sponsoring Institute

National Eye Institute (NEI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1 Years
Max Age: N/A

Referral Letter Required


Population Exclusion(s)



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

Recruitment Keyword(s)

Retinal Degeneration;
Age-Related Macular Degeneration;


Retinal Disease;
Retinal Degeneration;
Retinitis Pigmentosa

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Eye Institute


- 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, 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.


- To collect hair, skin, and blood samples to study three eye diseases that affect the retina: Best disease, L-ORD, and AMD.


- 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.


- The study requires one visit to the National Eye Institute.

- Participants will be screened with a medical and eye disease history. They will also have an eye exam.

- Participants will provide a hair sample, a blood sample, and 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.

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To be eligible, participants must meet the following inclusion criteria.

1. 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.

2. Participant meets one of the following criteria:

a. 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.

b. Participant is free of eye diseases and could serve as an unaffected control. Participant s age, gender, 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.

3. 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. 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 and a blood sample may be excluded from the study, based on the judgment of the examining investigator.

4. Participant meets one of the following criteria:

a. Participant affected with an ocular condition is one year of age or older.

b. Participant affected with Best disease, L-ORD, or AMD is 18 years of age or older.

c. Unaffected participant is seven years of age or older and willing and able to provide assent.


A participant is not eligible if any of the following exclusion criteria are present.

1. Participant is unable to comply with study procedures.

2. 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.

Inclusion Criteria

1. Participant must be greater than 18 years of age, as of the date of enrollment. There is no upper age limit for donor enrollment.

2. Participant is able to provide a punch skin biopsy and 200 ml of peripheral venous blood.

3. Participant is willing and eligible to co-enroll in NEI protocol 15-EI-0128.

Exclusion Criteria

1. Participant has medical history that includes any of the following:

a.Thrombocytopenia or other blood dyscrasias

b.Bleeding diathesis

c.Antibiotic use within the prior 48 hours

d.History of cancer

e.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.

f. Travel to an area where malaria is endemic as defined by the CDC (

g. 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"

2. Participant is Febrile (temperature > 38(degrees) C).

3. Participant has Hemoglobin level:

-African American women <11.5 grams/dL

-Other women < 12.0 grams/dL

-Men <12.5 grams/dL

4. Participant has HCT:

-African American women < 34%

-Other women <36%

-Men <38%

5. Participant has plateleys <150 x 10(3)/(micro)L

6.Participant has Absolute neutrophil count <1.0 x 10(3)/microL.

7. 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).

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Wu SM, Hochedlinger K. Harnessing the potential of induced pluripotent stem cells for regenerative medicine. Nat Cell Biol. 2011 May;13(5):497-505. Review. Erratum in: Nat Cell Biol. 2011 Jun;13(6):734.

Stadtfeld M, Hochedlinger K. Induced pluripotency: history, mechanisms, and applications. Genes Dev. 2010 Oct 15;2 (20):2239-63. Review.

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.

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Principal Investigator

Referral Contact

For more information:

Robert B. Hufnagel, M.D.
National Eye Institute (NEI)
(301) 503-1305

Daniel W. Claus, R.N.
National Eye Institute (NEI)
National Institutes of Health
Building 10
Room 10D45
10 Center Drive
Bethesda, Maryland 20892
(301) 451-1621

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1

Clinical Trials Number:


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