Linking RB1 genetic changes to eye tumors and metastasis
Official title: Genetic Associations of Ocular Cancers
Run by University of Washington · NCT06725173 · Data updated 2026-11-12
We will use targeted long-read genetic sequencing on people with retinoblastoma to see if specific RB1 mutations match tumor features and the risk of spread.
Quick facts
| Study type | Observational |
|---|---|
| Sex | All |
| Enrollment | 100 (estimated) |
| Sponsor | University of Washington Academic / other |
| Locations | 1 site (Seattle, Washington) |
| Status | Recruiting |
| Started | March 16, 2026 |
| Main results expected | January 1, 2030 |
| Study ends | January 1, 2031 |
| Registry record updated | March 18, 2026 |
| Trial ID | NCT06725173 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
People (typically children with parental consent) who have confirmed RB1-related retinoblastoma or a classic clinical retinoblastoma presentation with genetic testing pending, and who can provide consent and a blood or saliva sample, are ideal candidates.
✕Probably not a fit
Patients without RB1-related disease, those unwilling or unable to give consent or provide required samples, and those expecting immediate therapeutic benefit are unlikely to gain direct clinical benefit from participation.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational project uses targeted long-read sequencing of the RB1 gene on blood or saliva samples from people with unilateral, bilateral, recurrent, or extraocular retinoblastoma. Researchers will compare detailed genetic findings, including parent-of-origin, to clinical characteristics of the primary ocular tumors and any secondary metastases. The approach aims to identify complex or previously missed variants and clarify genotype–phenotype relationships. No experimental treatments are given; results are intended to inform diagnosis, surveillance, and genetic counseling.
Why it matters
Potential benefit: If successful, this work could improve genetic diagnosis, risk prediction, and family counseling for people with RB1-related retinoblastoma.
How similar studies have gone: Prior genetic studies have linked RB1 variants to clinical features, but targeted long-read sequencing to resolve complex variants and parent-of-origin effects is relatively new and has shown promising early results.
Who can join: the full rules
Show full inclusion / exclusion 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.
Where it's running
-
University of Washington
Seattle, Washington, United States Recruiting
Study contacts
- Principal investigator: Debarshi Mustafi, MD PhD — University of Washington
- Study coordinator: Debarshi Mustafi, MD PhD
- Email: debarshi@uw.edu
- Phone: 206-683-6305
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.