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

Recruiting Observational Study
Retinoblastoma Bilateral Retinoblastoma Unilateral Retinoblastoma, Extraocular Retinoblastoma, Recurrent Retinoblastoma
No Placebo Group Every participant receives an active treatment — no one gets a placebo. Healthy Volunteers Welcome You do not need to have the condition being studied to take part. No Study Drug Researchers observe your health over time — no experimental treatment is given.
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At a Glance
Sex
Any
Study type
Observational
Participants needed
100 (estimated)
Sponsor
University of Washington · Other
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About This Trial

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.

Trial Locations
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Eligibility 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 o…
Contacts

Debarshi Mustafi, MD PhD

206-683-6305

debarshi@uw.edu

CONTACT