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

Recruiting now

Conditions studied: Retinoblastoma Bilateral, Retinoblastoma Unilateral, Retinoblastoma, Extraocular, Retinoblastoma, Recurrent, Retinoblastoma

In brief

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.

Key facts

Study ID

NCT06725173

Run by

University of Washington

People needed

100

Starts

2026-03-16

Expected to finish

2031-01-01

Last updated by the study team

2026-03-18

Who can join

Age: any. Sex: any. Healthy volunteers: accepted.

You may qualify if…

• 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.

You may not qualify if…

• 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.

Where it is running

• University of Washington — Seattle, Washington, United States (enrolling)

Full record on ClinicalTrials.gov

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