Recruiting

NCT Number: NCT06725173

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

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.

Recruiting

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Key information

Conditions

Retinoblastoma Bilateral Disease Attributes Eye Diseases Eye Diseases, Hereditary Eye Neoplasms Neoplasms Neoplasms by Histologic Type Neoplasms by Site Neoplasms, Germ Cell and Embryonal Neoplasms, Glandular and Epithelial Neoplasms, Nerve Tissue Neoplasms, Neuroepithelial Neuroectodermal Tumors Pathologic Processes Pathological Conditions, Signs and Symptoms Recurrence Retinal Diseases Retinal Neoplasms Retinoblastoma Retinoblastoma Unilateral Retinoblastoma, Extraocular Retinoblastoma, Recurrent

Sex eligibility

All sexes

Study type

Observational

Primary location

University of Washington

Seattle, Washington, 98109, United States

Location status: Recruiting

Location contact

Andrew W Stacey, MD

PRINCIPAL_INVESTIGATOR

Debarshi Mustafi, MD PhD

CONTACT

206-221-2029

Debarshi Mustafi, MD PhD

PRINCIPAL_INVESTIGATOR

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Targeted Long-read sequencing

Genetic

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

Other names: Long-read sequencing

Primary outcomes

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

Study contacts

Contact information is provided by the study sponsor or research team.

Debarshi Mustafi, MD PhD

CONTACT

[email protected]

206-683-6305

Sponsors and collaborators

Lead sponsor

University of Washington

Other

Collaborators

National Eye Institute (NEI)

Registry information

Official study title

Genetic Associations of Ocular Cancers

Important dates

Study start: 2026
Primary completion: 2030
Study completion: 2031
First posted: Dec 10, 2024
Registry last updated: Mar 18, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Recruiting