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

Part of paid clinical trials in Seattle, Washington.

Sponsor
University of Washington
Study ID
NCT06725173
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
N/A - N/A
Healthy Volunteers
Accepted

Interventions

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

Study Details

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.

Key Dates

Start date
Mar 16, 2026
Status verified
Mar 2026
Primary completion
Jan 1, 2030
Completion
Jan 1, 2031

Study Design

Enrollment
100 participants (estimated)

Arms

  • Arm: Patients with presumed germline retinoblastoma due to RB1 mutation

Primary Outcome Measure

Epigenomic and genomic profiling of the RB1 gene [ Time Frame: 5 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
University of WashingtonSeattleWashington98109
Debarshi Mustafi, MD PhD
206-221-2029
Debarshi Mustafi, MD PhD (PRINCIPAL_INVESTIGATOR)
Andrew W Stacey, MD (PRINCIPAL_INVESTIGATOR)

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University of Washington· Seattle, WA

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