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| Name | Class |
|---|---|
| University of Wisconsin, Madison | OTHER |
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The goal of this study is to determine if human RB1-deficient induced pluripotent stem cells (iPSCs) can produce retina, and, furthermore, can give rise to retinoblastoma in culture. This unique opportunity to study the initiation of retinoblastoma in the developing retina will shed light on the cell of origin for retinoblastoma and allow the investigators to study the earliest molecular and cellular events in retinoblastoma tumorigenesis.
OBJECTIVES:
This is an observational study where a small skin cell sample or peripheral blood sample will be used to produce iPSCs. After RB1-deficient iPSCs are produced, their karyotype and RB1 mutation will be confirmed and their pluripotency will be tested by studying the expression of pluripotent genes and proteins according to standardized guidelines established for human iPSCs. After validation of the RB1-deficient iPSCs, they will be differentiated in the laboratory into retina following established protocols.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Retinoblastoma | Participants identified with heritable retinoblastoma will undergo a skin biopsy or blood draw to collect cells for processing and analysis. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Skin Biopsy | Other | A very small skin sample will be taken from the participant's arm. This will only be performed while the patient is under sedation for clinical purposes (e.g. exam under anesthesia, MRI, or other procedure requiring sedation). |
| Measure | Description | Time Frame |
|---|---|---|
| Number of samples which successfully produced iPSCs | Skin biopsy or peripheral blood mononuclear cells will be collected from eligible, consenting participants and shipped directly to the University of Wisconsin for processing. All samples will be returned to the St. Jude investigator within two months of reprogramming for further analysis. | Once at enrollment |
| Measure | Description | Time Frame |
|---|---|---|
| Number of samples with validated RB1-deficient iPSCs | Samples will be analyzed for standard G band karyotype and FISH analysis (RB1 probe), targeted RB1 mutation (based on known mutation of patient from whom the sample was derived), and validation of pluripotency based on standard protocols. | Once at enrollment |
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Inclusion Criteria:
Research participant with heritable retinoblastoma and one of the following criteria:
Participant or legal guardian/representative is able and willing to provide written informed consent.
Exclusion Criteria:
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Participants will have a diagnosis of heritable retinoblastoma.
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| Name | Affiliation | Role |
|---|---|---|
| Rachel C. Brennan, MD | St. Jude Children's Research Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| St. Jude Children's Research Hospital | Memphis | Tennessee | 38105 | United States |
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| Label | URL |
|---|---|
| St. Jude Children's Research Hospital | View source |
| Clinical Trials Open at St. Jude | View source |
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| ID | Term |
|---|---|
| D012175 | Retinoblastoma |
| ID | Term |
|---|---|
| D018302 | Neoplasms, Neuroepithelial |
| D017599 | Neuroectodermal Tumors |
| D009373 | Neoplasms, Germ Cell and Embryonal |
| D009370 | Neoplasms by Histologic Type |
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| ID | Term |
|---|---|
| D001800 | Blood Specimen Collection |
| ID | Term |
|---|---|
| D013048 | Specimen Handling |
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
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Skin samples or peripheral blood samples to be used to generate pluripotent stem cells.
|
| Blood Draw | Other | About 1 teaspoon of blood will be drawn from the participant's arm or from a central line catheter if present. Blood collection will be done at the same time the participant has blood drawn for routine clinical care. |
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| Number of samples that differentiate human iPSCs toward an eye field fate |
The best available methodology will be utilized for analyses of the RB1-deficient iPSCs. |
| Once at enrollment |
| D009369 | Neoplasms |
| D009375 | Neoplasms, Glandular and Epithelial |
| D009380 | Neoplasms, Nerve Tissue |
| D019572 | Retinal Neoplasms |
| D005134 | Eye Neoplasms |
| D009371 | Neoplasms by Site |
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D012164 | Retinal Diseases |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D008919 | Investigative Techniques |