Cell Collection to Study Eye Diseases
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|ClinicalTrials.gov Identifier: NCT01432847|
Recruitment Status : Recruiting
First Posted : September 13, 2011
Last Update Posted : May 26, 2023
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- 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.
|Condition or disease|
|Retinal Disease AMD Retinal Degeneration Retinitis Pigmentosa|
|Study Type :||Observational|
|Estimated Enrollment :||930 participants|
|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|
|Actual Study Start Date :||September 7, 2011|
Participants affected by ocular diseases/conditions.
Age, gender, and ethnicity-matched to participants with ocular conditions.
- Creation of iPS cells from at least 1 type of somatic tissue collected from participants, differentiation of iPS cells into RPE and/or neural retinal The creation of iPS cells from at least one type of somatic tissue collected from participants. [ Time Frame: Duration of protocol ]
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|Ages Eligible for Study:||1 Year and older (Child, Adult, Older Adult)|
|Sexes Eligible for Study:||All|
|Accepts Healthy Volunteers:||Yes|
|Sampling Method:||Non-Probability Sample|
- INCLUSION CRITERIA:
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, 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.
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.
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.
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 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
- History of cancer
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 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 HCT:
- African American women < 34%
- Other women <36%
- Men <38%
- Participant has plateleys <150 x 10(3)/(micro)L
- Participant has Absolute neutrophil count <1.0 x 10(3)/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).
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01432847
|Contact: Daniel W Claus, R.N.||(301) firstname.lastname@example.org|
|Contact: Robert B Hufnagel, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY dial 711 firstname.lastname@example.org|
|Principal Investigator:||Robert B Hufnagel, M.D.||National Eye Institute (NEI)|
|Responsible Party:||National Eye Institute (NEI)|
|Other Study ID Numbers:||
|First Posted:||September 13, 2011 Key Record Dates|
|Last Update Posted:||May 26, 2023|
|Last Verified:||April 24, 2023|
|Individual Participant Data (IPD) Sharing Statement:|
|Plan to Share IPD:||No|
|Studies a U.S. FDA-regulated Drug Product:||No|
|Studies a U.S. FDA-regulated Device Product:||No|
Late-Onset Retinal Degeneration (L-ORD)
Age-Related Macular Degeneration (AMD)
Age-Related Macular Degeneration
Eye Diseases, Hereditary
Genetic Diseases, Inborn