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RecruitingObservational

Genetic Associations of Ocular Cancers

NCT ID: NCT06725173Sponsor: University of WashingtonLast updated: 2026-03-18

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.

Arms & interventions

  • GeneticTargeted Long-read sequencing

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

Outcome measures

Primary

  • 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

Eligibility criteria

Sex: AllAge: All agesHealthy volunteers: Yes
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.

Study locations (1)

University of Washington

Seattle, Washington, 98109

Recruiting
Debarshi Mustafi, MD PhD · Contact
206-221-2029
Debarshi Mustafi, MD PhD · Principal Investigator
Andrew W Stacey, MD · Principal Investigator

References

  • Stacey AW, Nakamichi K, Huey J, Stevens J, Waligorski N, Crotty EE, Van Gelder RN, Mustafi D. Prognostic importance of direct assignment of parent of origin via long-read genome and epigenome sequencing in retinoblastoma. JCI Insight. 2024 Dec 26;10(4):e188216. doi: 10.1172/jci.insight.188216.(PubMed)
  • Nakamichi K, Stacey A, Mustafi D. Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma. Ophthalmic Genet. 2022 Dec;43(6):762-770. doi: 10.1080/13816810.2022.2141797. Epub 2022 Nov 3.(PubMed)