Trials / Recruiting
RecruitingNCT06725173
Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
Genetic Associations of Ocular Cancers
- Status
- Recruiting
- Phase
- —
- Study type
- Observational
- Enrollment
- 100 (estimated)
- Sponsor
- University of Washington · Academic / Other
- Sex
- All
- Age
- —
- Healthy volunteers
- Accepted
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
| Type | Name | Description |
|---|---|---|
| GENETIC | Targeted Long-read sequencing | All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene |
Timeline
- Start date
- 2026-03-16
- Primary completion
- 2030-01-01
- Completion
- 2031-01-01
- First posted
- 2024-12-10
- Last updated
- 2026-03-18
Locations
1 site across 1 country: United States
Source: ClinicalTrials.gov record NCT06725173. Inclusion in this directory is not an endorsement.