Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma
| Status: | Active, not recruiting |
|---|---|
| Conditions: | Brain Cancer |
| Therapuetic Areas: | Oncology |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 5/26/2018 |
| Start Date: | November 4, 2014 |
| End Date: | April 2019 |
Feasibility, Validation and Differentiation of Induced Pluripotent Stem Cells Produced From Patients With Heritable Retinoblastoma
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:
- 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.
(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:
- 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.
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.
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.
Inclusion Criteria:
- Research participant with heritable retinoblastoma and one of the following criteria:
- Family history with RB1 mutation identified
- Diagnosis of bilateral retinoblastoma
- Diagnosis of unilateral retinoblastoma with RB1 mutation or MYCN amplification
identified
- Participant or legal guardian/representative is able and willing to provide written
informed consent.
Exclusion Criteria:
- Participants who do not meet the inclusion criteria will be excluded.
We found this trial at
1
site
262 Danny Thomas Pl
Memphis, Tennessee 38105
Memphis, Tennessee 38105
(901) 495-3300
Principal Investigator: Rachel C. Brennan, MD
Phone: 866-278-5833
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