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

University of Washington · with National Eye Institute (NEI) · NCT06725173

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Opens the official ClinicalTrials.gov record, with the study team’s contacts. Bored Studies doesn’t enroll anyone.

Key facts

Compensation
Not posted. Ask the study team before screening.
Who can join
Any age listed · All sexes
Healthy volunteers
Accepted
Study type
Observational
Target enrollment
100
US sites recruiting
1
Study start
March 16, 2026
Record last updated
March 18, 2026

Status re-checked against ClinicalTrials.gov within the last 12 hours.

What the study is 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.

Being studied: Targeted Long-read sequencing

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

Eligibility criteria

Copied from the official record. The study team makes the final decision at screening.

Show full criteria

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.

Recruiting US locations

  • University of Washington

    Seattle, WA 98109

    Site contact: Debarshi Mustafi, MD PhD · 206-221-2029

Study contacts (from the official record)

  • Debarshi Mustafi, MD PhD · 206-683-6305 · debarshi@uw.edu
All healthy volunteers studies in Washington →
Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations… (NCT06725173) | Bored Studies