Genetic Associations of Ocular Cancers
Status: Recruiting
Location: See location...
Intervention Type: Genetic
Study Type: Observational
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
Participation Requirements
Sex: All
Healthy Volunteers: t
View:
• 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.
Locations
United States
Washington
University of Washington
RECRUITING
Seattle
Contact Information
Primary
Debarshi Mustafi, MD PhD
debarshi@uw.edu
206-683-6305
Time Frame
Start Date: 2026-03-16
Estimated Completion Date: 2031-01-01
Participants
Target number of participants: 100
Treatments
Patients with presumed germline retinoblastoma due to RB1 mutation
Related Therapeutic Areas
Sponsors
Leads: University of Washington
Collaborators: National Eye Institute (NEI)