Linking RB1 genetic changes to eye tumors and metastasis
Genetic Associations of Ocular Cancers
University of Washington · NCT06725173
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 |
|---|---|
| Enrollment | 100 (estimated) |
| Sex | All |
| Sponsor | University of Washington (other) |
| Locations | 1 site (Seattle, Washington) |
| Trial ID | NCT06725173 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
Seattle, Washington
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Retinoblastoma Bilateral, Retinoblastoma Unilateral, Retinoblastoma, Extraocular, Retinoblastoma, Recurrent, Retinoblastoma, retinoblastoma, parent-of-origin