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Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
Genetic Associations of Ocular Cancers
Who can join
All ages · All sexes · Healthy volunteers welcome
Full 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.
About the study
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.
What is being tested
- Targeted Long-read sequencing (genetic)
Sponsor: University of Washington · Participants: 100 · Started: Mar 16, 2026
Contact the study team
- Debarshi Mustafi, MD PhD · Phone: 206-683-6305
Official record on ClinicalTrials.gov — NCT06725173
Locations in the U.S.
| Washington | University of Washington, Seattle |
Conditions
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.