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