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Observational Study for RB1 Mutations in Retinoblastoma

This is an observational study looking at retinoblastoma (a type of eye cancer) and other cancers linked to changes in the RB1 gene. Researchers will use a special genetic test called Targeted Long-read sequencing to understand the RB1 gene in patients. The goal is to learn more about how these gene changes relate to the cancer. You can join if you have retinoblastoma that's been confirmed by genetic testing or if you have the typical signs of retinoblastoma and are waiting for genetic test results. The study is currently unclear on its recruitment status and aims to enroll 100 participants. The main goal is to study the RB1 gene over 5 years.

Study design
This is an observational study planning to enroll 100 participants. It is not specified if it's a randomized or blinded study.
What's involved
All patients will undergo Targeted Long-read sequencing, a genetic test. The record does not specify other visits, procedures, or how long these commitments will last.
Compensation
Not stated in the trial record.
Follow-up
The primary endpoint, genomic profiling of the RB1 gene, will be measured at 5 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT06725173

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

Recruiting
Not specifiedAll AgesObservational
University of Washington
~100 participants
Updated 2026-03-18 on ClinicalTrials.gov
What's tested:Targeted Long-read sequencing

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Epigenomic and genomic profiling of the RB1 gene
Measured over 5 years

Conditions

Retinoblastoma Bilateral
Retinoblastoma Unilateral
Retinoblastoma, Extraocular
Retinoblastoma, Recurrent
Retinoblastoma

Explore related trials

RetinoblastomaRB1 Gene

Where it's being run

1 sites across 1 states
Washington1

Study leadership

  • Debarshi Mustafi, MD PhD · PRINCIPAL_INVESTIGATOR · University of Washington
  • Andrew W Stacey, MD · PRINCIPAL_INVESTIGATOR · University of Washington

Who to contact

Debarshi Mustafi, MD PhD
[email protected]
206-683-6305
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

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.

What this trial measures

  • Epigenomic and genomic profiling of the RB1 gene5 years

    Methylation signatures and genomic variant information to determine phase of the pathogenic variants in RB1 to specific differentially methylated signals in RB1