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

RECRUITINGSponsored by University of Washington
Actively Recruiting
SponsorUniversity of Washington
Started2026-03-16
Est. completion2030-01-01
Eligibility
Healthy vol.Accepted
Locations1 site
View on ClinicalTrials.gov →

NCT06725173

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

Healthy volunteers accepted
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.

Conditions6

CancerRetinoblastomaRetinoblastoma BilateralRetinoblastoma UnilateralRetinoblastoma, ExtraocularRetinoblastoma, Recurrent

Locations1 site

University of Washington
Seattle, Washington, 98109
Debarshi Mustafi, MD PhD206-221-2029

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