Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma

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Brief Title

Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma

Official Title

Feasibility, Validation and Differentiation of Induced Pluripotent Stem Cells Produced From Patients With Heritable Retinoblastoma

Brief Summary

      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.

Detailed Description

      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.

Study Type

Observational

Primary Outcome

Number of samples which successfully produced iPSCs

Secondary Outcome

 Number of samples with validated RB1-deficient iPSCs

Condition

Retinoblastoma

Intervention

Skin Biopsy

Study Arms / Comparison Groups

 Retinoblastoma
Description:  Participants identified with heritable retinoblastoma will undergo a skin biopsy or blood draw to collect cells for processing and analysis.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status

Other

Estimated Enrollment

15

Start Date

November 4, 2014

Completion Date

August 23, 2019

Primary Completion Date

August 23, 2019

Eligibility Criteria

        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.

Gender

All

Ages

N/A - N/A

Accepts Healthy Volunteers

No

Contacts

Rachel C. Brennan, MD, ,

Location Countries

United States

Location Countries

United States

Administrative Informations

NCT ID

NCT02193724

Organization ID

RETCELL

Responsible Party

Sponsor

Study Sponsor

St. Jude Children's Research Hospital

Collaborators

 University of Wisconsin, Madison

Study Sponsor

Rachel C. Brennan, MD, Principal Investigator, St. Jude Children's Research Hospital

Verification Date

October 2020