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Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02193724
Recruitment Status : Completed
First Posted : July 18, 2014
Last Update Posted : October 23, 2020
University of Wisconsin, Madison
Information provided by (Responsible Party):
St. Jude Children's Research Hospital

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.


  • 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

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.

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Study Type : Observational
Actual Enrollment : 15 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Feasibility, Validation and Differentiation of Induced Pluripotent Stem Cells Produced From Patients With Heritable Retinoblastoma
Actual Study Start Date : November 4, 2014
Actual Primary Completion Date : August 23, 2019
Actual Study Completion Date : August 23, 2019

Resource links provided by the National Library of Medicine

MedlinePlus related topics: Biopsy

Group/Cohort Intervention/treatment
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

Primary Outcome Measures :
  1. 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.

Secondary Outcome Measures :
  1. 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.

  2. 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
Skin samples or peripheral blood samples to be used to generate pluripotent stem cells.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Participants will have a diagnosis of heritable retinoblastoma.

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.

Information from the National Library of Medicine

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 identifier (NCT number): NCT02193724

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United States, Tennessee
St. Jude Children's Research Hospital
Memphis, Tennessee, United States, 38105
Sponsors and Collaborators
St. Jude Children's Research Hospital
University of Wisconsin, Madison
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Principal Investigator: Rachel C. Brennan, MD St. Jude Children's Research Hospital
Additional Information:
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Responsible Party: St. Jude Children's Research Hospital Identifier: NCT02193724    
Other Study ID Numbers: RETCELL
First Posted: July 18, 2014    Key Record Dates
Last Update Posted: October 23, 2020
Last Verified: October 2020

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by St. Jude Children's Research Hospital:
Heritable Retinoblastoma
Familial Retinoblastoma
Pluripotent Stem Cells
Additional relevant MeSH terms:
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Neoplasms, Neuroepithelial
Neuroectodermal Tumors
Neoplasms, Germ Cell and Embryonal
Neoplasms by Histologic Type
Neoplasms, Glandular and Epithelial
Neoplasms, Nerve Tissue
Retinal Neoplasms
Eye Neoplasms
Neoplasms by Site
Eye Diseases, Hereditary
Eye Diseases
Retinal Diseases