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

University of Washington

Status: Active, not recruiting

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

Treatments: Genetic: Targeted Long-read sequencing

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT06725173

STUDY00021737

K08EY033789 (U.S. NIH Grant/Contract)

Details and patient eligibility

About

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.

Enrollment: 100 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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.

Trial design

100 participants in 1 patient group

Patients with presumed germline retinoblastoma due to RB1 mutation

Treatment:

Genetic: Targeted Long-read sequencing