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

NCT06725173 · Status: RECRUITING · Type: OBSERVATIONAL · Enrollment: 100

Last updated 2026-03-18

No results posted yet for this study

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.

Conditions

  • Retinoblastoma Bilateral
  • Retinoblastoma Unilateral
  • Retinoblastoma, Extraocular
  • Retinoblastoma, Recurrent
  • Retinoblastoma

Interventions

GENETIC

Targeted Long-read sequencing

All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene

Sponsors & Collaborators

Principal Investigators

  • Debarshi Mustafi, MD PhD · University of Washington

  • Andrew W Stacey, MD · University of Washington

Eligibility

Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2026-03-16
Primary Completion
2030-01-01
Completion
2031-01-01

Countries

  • United States

Study Locations

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Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06725173 on ClinicalTrials.gov