Retinitis Pigmentosa Clinical Trial
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
NCT number | NCT01432847 |
Other study ID # | 110245 |
Secondary ID | 11-EI-0245 |
Status | Recruiting |
Phase | |
First received | |
Last updated | |
Start date | September 7, 2011 |
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, 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, and 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 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.
Status | Recruiting |
Enrollment | 930 |
Est. completion date | |
Est. primary completion date | |
Accepts healthy volunteers | Accepts Healthy Volunteers |
Gender | All |
Age group | 1 Day to 120 Years |
Eligibility | - INCLUSION CRITERIA: 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: 1. 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. 2. 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: 1. Participant affected with an ocular condition is one year of age or older. 2. Participant affected with Best disease, L-ORD, or AMD is 18 years of age or older. 3. Unaffected participant is seven years of age or older and willing and able to provide assent. EXCLUSION CRITERIA: 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. 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. 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: 1. Thrombocytopenia or other blood dyscrasias 2. Bleeding diathesis 3. Antibiotic use within the prior 48 hours 4. History of cancer 5. 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. 6. Travel to an area where malaria is endemic as defined by the CDC (www.cdc.gov/travel). 7. 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). |
Country | Name | City | State |
---|---|---|---|
United States | National Institutes of Health Clinical Center | Bethesda | Maryland |
Lead Sponsor | Collaborator |
---|---|
National Eye Institute (NEI) |
United States,
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* Note: There are 30 references in all — Click here to view all references
Type | Measure | Description | Time frame | Safety issue |
---|---|---|---|---|
Primary | 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. | Duration of protocol | |
Primary | 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. | Duration of protocol | |
Primary | 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. | Duration of protocol | |
Primary | 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. | Duration of protocol |
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