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Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma

NCT02193724 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 15

Last updated 2020-10-23

No results posted yet for this study

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.

Conditions

  • Retinoblastoma

Interventions

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

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.

Sponsors & Collaborators

Principal Investigators

  • Rachel C. Brennan, MD · St. Jude Children's Research Hospital

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2014-11-04
Primary Completion
2019-08-23
Completion
2019-08-23

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT02193724 on ClinicalTrials.gov