Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma
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|ClinicalTrials.gov Identifier: NCT02193724|
Recruitment Status : Active, not recruiting
First Posted : July 18, 2014
Last Update Posted : May 24, 2018
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.
- To establish the feasibility of producing induced pluripotent stem cells (iPSCs) from retinoblastoma patients with germline RB1 mutations (RB1-deficient iPSCs).
- To validate human RB1-deficient iPSCs by confirming karyotype, pluripotency and RB1 mutation.
- To differentiate the RB1-deficient iPSCs into retina as a model of the initiation of retinoblastoma in the developing retina.
|Condition or disease||Intervention/treatment|
|Retinoblastoma||Other: Skin Biopsy Other: Blood Draw|
|Study Type :||Observational|
|Estimated Enrollment :||20 participants|
|Official Title:||Feasibility, Validation and Differentiation of Induced Pluripotent Stem Cells Produced From Patients With Heritable Retinoblastoma|
|Actual Study Start Date :||November 4, 2014|
|Estimated Primary Completion Date :||April 2019|
|Estimated Study Completion Date :||April 2019|
Participants identified with heritable retinoblastoma will undergo a skin biopsy or blood draw to collect cells for processing and analysis.
Other: Skin Biopsy
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).
Other Name: Punch Biopsy
Other: Blood Draw
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.
Other Name: Blood Sample
- Number of samples which successfully produced iPSCs [ Time Frame: Once at enrollment ]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.
- Number of samples with validated RB1-deficient iPSCs [ Time Frame: Once at enrollment ]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.
- Number of samples that differentiate human iPSCs toward an eye field fate [ Time Frame: Once at enrollment ]The best available methodology will be utilized for analyses of the RB1-deficient iPSCs.
Biospecimen Retention: Samples With DNA
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): NCT02193724
|United States, Tennessee|
|St. Jude Children's Research Hospital|
|Memphis, Tennessee, United States, 38105|
|Principal Investigator:||Rachel C. Brennan, MD||St. Jude Children's Research Hospital|