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

Active, not recruiting

• Conditions: Retinoblastoma Bilateral; Retinoblastoma Unilateral; Retinoblastoma, Extraocular; Retinoblastoma, Recurrent; Retinoblastoma

• Registration Number: NCT06725173
• Lead Sponsor: University of Washington

Brief 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.

Detailed Description

Not available

Basic Information
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Recruitment & Eligibility
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Study & Design
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Trial Locations

Study Timeline

• Status Verified: 2024-12
• Study Start: 2024-12-01
• Study First Submitted: 2024-12-05
• Study First Submitted QC: 2024-12-05
• Last Update Submitted: 2024-12-05
• Study First Posted: 2024-12-10
• Last Update Posted: 2024-12-10
• Primary Completion: 2030-01-01
• Study Completion: 2031-01-01

Recruitment & Eligibility

• Status: ACTIVE_NOT_RECRUITING
• Sex: All
• Target Recruitment: 100

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.

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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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Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Epigenomic and genomic profiling of the RB1 gene	5 years	Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1

Trial Locations

Locations (1)

University of Washington; 🇺🇸 Seattle, Washington, United States