Recruiting

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

Sponsor:

University of Washington

Code:

NCT06725173

Conditions

Retinoblastoma Bilateral

Retinoblastoma Unilateral

Retinoblastoma, Extraocular

Retinoblastoma, Recurrent

Retinoblastoma

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Interventions

Targeted Long-read sequencing

Study Details

Brief 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

Study ID

NCT06725173

Start date

Mar 16, 2026

Status verified date

Mar, 2026

Completion date

Jan 1, 2031

Anticipated

Primary completion date

Jan 1, 2030

Anticipated

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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 Design

Enrollment

100 participants

Anticipated

Interventions and Outcome Measures

Arms

Patients with presumed germline retinoblastoma due to RB1 mutation

Interventions

Targeted Long-read sequencing

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

Primary outcome measure

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

Central Contacts and Locations

Central contacts

Debarshi Mustafi, MD PhD

206-683-6305 debarshi@uw.edu

Locations

University of Washington

Recruiting

Seattle, Washington, United States, 98109

Contacts

Debarshi Mustafi, MD PhD

206-221-2029

Principal Investigator:

Debarshi Mustafi, MD PhD

More Information

Sponsor

University of Washington

Last update posted

Mar 18, 2026

Last verified

Mar, 2026

Keywords

retinoblastoma
parent-of-origin

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by University of Washington on 2026-03-18.