Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma

Completed

Conditions studied: Retinoblastoma

In brief

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.

Key facts

Study ID

NCT02193724

Run by

St. Jude Children's Research Hospital

People needed

15

Starts

2014-11-04

Expected to finish

2019-08-23

Last updated by the study team

2020-10-23

Who can join

Age: any. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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.

You may not qualify if…

• Participants who do not meet the inclusion criteria will be excluded.

Where it is running

• St. Jude Children's Research Hospital — Memphis, Tennessee, United States

Full record on ClinicalTrials.gov

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