Actively Recruiting
Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
Led by University of Washington · Updated on 2026-03-18
100
Participants Needed
1
Research Sites
250 weeks
Total Duration
On this page
Sponsors
U
University of Washington
Lead Sponsor
N
National Eye Institute (NEI)
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients with molecularly proven retinoblastoma due to RB1 or a typical clinical retinoblastoma phenotype with genetic screening pending
- Able to give consent or parent or guardian able to give consent
You will not qualify if you...
- Patients unable or unwilling to provide consent or undergo clinical testing
- Patients unwilling to donate saliva or blood samples for genetic cause determination
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
University of Washington
Seattle, Washington, United States, 98109
Actively Recruiting
Research Team
D
Debarshi Mustafi, MD PhD
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
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