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Completed

NCT Number: NCT02193724

Feasibility of Generating Pluripotent Stem Cells From Patients With Familial 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.

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Key information

Conditions

Retinoblastoma Eye Diseases Eye Diseases, Hereditary Eye Neoplasms Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Germ Cell and Embryonal Neoplasms, Glandular and Epithelial Neoplasms, Nerve Tissue Neoplasms, Neuroepithelial Neuroectodermal Tumors Retinal Diseases Retinal Neoplasms

Sex eligibility

All sexes

Study type

Observational

Primary location

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Skin biopsy

Other

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 names: Punch Biopsy

Blood Draw

Other

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 names: Blood Sample

Primary outcomes

  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 outcomes

  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.

Sponsors and collaborators

Lead sponsor

St. Jude Children's Research Hospital

Other

Collaborators

  • University of Wisconsin, Madison

Registry information

Official study title

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

Important dates

Study start
2014
Primary completion
2019
Study completion
2019
First posted
Jul 18, 2014
Registry last updated
Oct 23, 2020

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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