NCT06725173RecruitingAccepts Healthy Volunteers

Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.

University of Washington

Start Date

3/16/2026

Completion Date

1/1/2031

Summary

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.

Eligibility Criteria

Age Range: No minimum to No maximum

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.

Interventions

GENETIC

Targeted Long-read sequencing

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Conditions

Retinoblastoma BilateralRetinoblastoma UnilateralRetinoblastoma, ExtraocularRetinoblastoma, RecurrentRetinoblastoma

Locations

University of Washington

Seattle, Washington 98109

United States