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

Recruitingn/aAges any - anyAllUniversity of Washington
NCT06725173 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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.
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What it tests

  • Targeted Long-read sequencing
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Where

1 site
University of Washington
Seattle, United States
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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