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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT02193724
Other study ID # RETCELL
Secondary ID
Status Completed
Phase
First received
Last updated
Start date November 4, 2014
Est. completion date August 23, 2019

Study information

Verified date October 2020
Source St. Jude Children's Research Hospital
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial 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.


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.


Recruitment information / eligibility

Status Completed
Enrollment 15
Est. completion date August 23, 2019
Est. primary completion date August 23, 2019
Accepts healthy volunteers No
Gender All
Age group N/A and older
Eligibility 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.

Study Design


Related Conditions & MeSH terms


Intervention

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).
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.

Locations

Country Name City State
United States St. Jude Children's Research Hospital Memphis Tennessee

Sponsors (2)

Lead Sponsor Collaborator
St. Jude Children's Research Hospital University of Wisconsin, Madison

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Number of samples which successfully produced iPSCs 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. Once at enrollment
Secondary Number of samples with validated RB1-deficient iPSCs 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. Once at enrollment
Secondary Number of samples that differentiate human iPSCs toward an eye field fate The best available methodology will be utilized for analyses of the RB1-deficient iPSCs. Once at enrollment
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