Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma

NCT02193724 | Completed

• 1 other identifier: RETCELL
• Study Type: observational
• Target: 15
• Locations: 1 country
• Sites: 1

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. 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

Keywords

Heritable Retinoblastoma; Familial Retinoblastoma; Pluripotent Stem Cells

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• Number of samples with validated RB1-deficient iPSCs

  Once at enrollment

• Number of samples that differentiate human iPSCs toward an eye field fate

  Once at enrollment

Study Arms (1)

Retinoblastoma

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

Other: Skin Biopsy; Other: Blood Draw

Interventions

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).

Also known as: Punch Biopsy

Retinoblastoma

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.

Also known as: Blood Sample

Retinoblastoma

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Participants will have a diagnosis of heritable retinoblastoma.

You may qualify if:

• 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.

Sponsors & Collaborators

• St. Jude Children's Research Hospital: lead
• University of Wisconsin, Madison: collaborator

Study Sites (1)

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

Location

Related Links

• St. Jude Children's Research Hospital
• Clinical Trials Open at St. Jude

Biospecimen

Retention: SAMPLES WITH DNA

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

MeSH Terms

Conditions

Retinoblastoma

Interventions

Blood Specimen Collection

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Rachel C. Brennan, MD

  St. Jude Children's Research Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 16, 2014
• First Posted: July 18, 2014
• Study Start: November 4, 2014
• Primary Completion: August 23, 2019
• Study Completion: August 23, 2019
• Last Updated: October 23, 2020

Record last verified: 2020-10

Locations

US (1)