Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma

NCT ID: NCT02193724

Last Updated: 2020-10-23

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

15 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-11-04

Study Completion Date

2019-08-23

Brief Summary

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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

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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.

Conditions

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Retinoblastoma

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Retinoblastoma

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

Skin Biopsy

Intervention Type 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).

Blood Draw

Intervention Type 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.

Interventions

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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).

Intervention Type 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.

Intervention Type OTHER

Other Intervention Names

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Punch Biopsy Blood Sample

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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University of Wisconsin, Madison

OTHER

Sponsor Role collaborator

St. Jude Children's Research Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Rachel C. Brennan, MD

Role: PRINCIPAL_INVESTIGATOR

St. Jude Children's Research Hospital

Locations

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St. Jude Children's Research Hospital

Memphis, Tennessee, United States

Site Status

Countries

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United States

Related Links

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http://www.stjude.org

St. Jude Children's Research Hospital

http://www.stjude.org/protocols

Clinical Trials Open at St. Jude

Other Identifiers

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RETCELL

Identifier Type: -

Identifier Source: org_study_id

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