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

March 17, 2026 updated by: Debarshi Mustafi, University of Washington

Genetic Associations of Ocular Cancers

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.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Study Type

Observational

Enrollment (Estimated)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

  • Name: Debarshi Mustafi, MD PhD
  • Phone Number: 206-683-6305
  • Email: debarshi@uw.edu

Study Locations

  • United States
    • Washington
      • Seattle, Washington, United States, 98109
        • Recruiting
        • University of Washington
        • Contact:
          • Debarshi Mustafi, MD PhD
          • Phone Number: 206-221-2029
        • Principal Investigator:
          • Debarshi Mustafi, MD PhD
        • Principal Investigator:
          • Andrew W Stacey, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Sampling Method

Non-Probability Sample

Study Population

patients with presumed or genetically confirmed retinoblastoma

Description

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 Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
Patients with presumed germline retinoblastoma due to RB1 mutation
Genetic: Targeted Long-read sequencing
All patient's will undergo targeted long-read sequencing to resolve genomic and epigenomic signatures of the RB1 gene
Other Names:
  • Long-read sequencing

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Epigenomic and genomic profiling of the RB1 gene
Time Frame: 5 years
Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1
5 years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University of Washington

Collaborators

National Eye Institute (NEI)

Investigators

  • Principal Investigator: Debarshi Mustafi, MD PhD, University of Washington
  • Principal Investigator: Andrew W Stacey, MD, University of Washington

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

March 16, 2026

Primary Completion (Estimated)

January 1, 2030

Study Completion (Estimated)

January 1, 2031

Study Registration Dates

First Submitted

December 5, 2024

First Submitted That Met QC Criteria

December 5, 2024

First Posted (Actual)

December 10, 2024

Study Record Updates

Last Update Posted (Actual)

March 18, 2026

Last Update Submitted That Met QC Criteria

March 17, 2026

Last Verified

March 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • STUDY00021737
  • K08EY033789 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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