Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Targeted Long-read sequencing.
- Who it may be relevant to
- Registry conditions: Retinoblastoma Bilateral, Retinoblastoma Unilateral, Retinoblastoma, Extraocular, Retinoblastoma, Recurrent. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Genetic Associations of Ocular Cancers
Overview
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.
Interventions
- Genetic Targeted Long-read sequencing
All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene
Primary outcome measures
- Epigenomic and genomic profiling of the RB1 gene [Time frame: 5 years]
Eligibility criteria
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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
United States · 1 center
- University of Washington — Seattle
Publications
- Stacey 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
- Nakamichi 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
Identifiers
NCT: NCT06725173 · STUDY00021737 · K08EY033789