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

N/AActive Not RecruitingNCT06725173

University of Washington100 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

100

Conditions

Retinoblastoma Bilateral Retinoblastoma Unilateral Retinoblastoma, Extraocular Retinoblastoma, Recurrent Retinoblastoma

Interventions

Eligibility

Sex: ALLHealthy volunteers:

Medical Language ↔ Plain English

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.

Outcomes

Primary Outcomes

Epigenomic and genomic profiling of the RB1 gene

Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1

Time frame: 5 years

Data from ClinicalTrials.gov

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