Clinical trial · Observational
Feasibility of Generating Pluripotent Stem Cells From Patients With Familial Retinoblastoma
Feasibility, Validation and Differentiation of Induced Pluripotent Stem Cells Produced From Patients With Heritable Retinoblastoma
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (1)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Retinoblastoma | Retinoblastoma | ONTOLOGY_EXACT | 0.98 |
Interventions
Interventions (2)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Blood Draw | Other | — | UNRESOLVED |
| Skin Biopsy | Other | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- Retinoblastoma
- description
- Participants identified with heritable retinoblastoma will undergo a skin biopsy or blood draw to collect cells for processing and analysis.
- interventionNames
- Other: Skin Biopsy
- Other: Blood Draw
Primary outcomes (1)
- measure
- Number of samples which successfully produced iPSCs
- timeFrame
- Once at enrollment
- description
- 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 (2)
- measure
- Number of samples with validated RB1-deficient iPSCs
- timeFrame
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
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.
References
Publications (0)
Data not yet available