Clinical trial · Observational
Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
Genetic Associations of Ocular Cancers
NCT06725173CI-TRIAL-00105895recruitingClinicalTrials.gov clinicaltrialsProvenance
- 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 observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene. Our research sequencing approach will allow advanced insight to for further detailed genotypic understanding of parent-of-origin for valuable insight into the genotype-phenotype relationship of this cancer syndrome.
Conditions
Conditions (5)
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 |
| Retinoblastoma Bilateral | — | UNRESOLVED | — |
| Retinoblastoma, Extraocular | Extraocular Retinoblastoma | ONTOLOGY_EXACT | 0.90 |
| Retinoblastoma, Recurrent | Retinoblastoma | CURATED_BROADER | 0.78 |
| Retinoblastoma Unilateral | — | UNRESOLVED | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Targeted Long-read sequencing | Genetic | — | UNRESOLVED |
Design
Arms and outcomes
Arms (1)
- label
- Patients with presumed germline retinoblastoma due to RB1 mutation
- interventionNames
- Genetic: Targeted Long-read sequencing
Primary outcomes (1)
- measure
- Epigenomic and genomic profiling of the RB1 gene
- timeFrame
- 5 years
- description
- Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1
Eligibility
Eligibility (as posted)
- Sex
- All
Show eligibility criteria text
Inclusion Criteria: * Patients with molecularly proven retinoblastoma due to RB1 or a typical clinical retinoblastoma phenotype with genetic screening pending. * Able to give consent/parent or guardian able to give consent. Exclusion Criteria: * Patients unable or unwilling to undertake consent or clinical testing. * Patients unwilling to donate a saliva or blood sample in order to establish the genetic cause of their condition.
References
Publications (2)
- BACKGROUNDStacey AW, Nakamichi K, Huey J, Stevens J, Waligorski N, Crotty EE, Van Gelder RN, Mustafi D. Prognostic importance of direct assignment of parent of origin via long-read genome and epigenome sequencing in retinoblastoma. JCI Insight. 2024 Dec 26;10(4):e188216. doi: 10.1172/jci.insight.188216. PMID 39724000
- BACKGROUNDNakamichi K, Stacey A, Mustafi D. Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma. Ophthalmic Genet. 2022 Dec;43(6):762-770. doi: 10.1080/13816810.2022.2141797. Epub 2022 Nov 3. PMID 36325802