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

NCT06725173 | Recruiting DMC

• 2 other identifiers: STUDY00021737K08EY033789
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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, Extraocular; Retinoblastoma, Recurrent; Retinoblastoma; Retinoblastoma Unilateral; Retinoblastoma Bilateral

Keywords

retinoblastoma; parent-of-origin

Outcome Measures

Primary Outcomes (1)

• Epigenomic and genomic profiling of the RB1 gene

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

  5 years

Study Arms (1)

Patients with presumed germline retinoblastoma due to RB1 mutation

Genetic: Targeted Long-read sequencing

Interventions

Targeted Long-read sequencing GENETIC

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

Also known as: Long-read sequencing

Patients with presumed germline retinoblastoma due to RB1 mutation

Eligibility Criteria

• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

patients with presumed or genetically confirmed retinoblastoma

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Washington: lead
• National Eye Institute (NEI): collaborator

Study Sites (1)

University of Washington

Seattle, Washington, 98109, United States

RECRUITING

Related Publications (2)

• Stacey AW, Nakamichi K, Huey J, Stevens J, Waligorski N, Crotty EE, Van Gelder RN, Mustafi D. Prognostic importance of direct assignment of parent of origin via long-read genome and epigenome sequencing in retinoblastoma. JCI Insight. 2024 Dec 26;10(4):e188216. doi: 10.1172/jci.insight.188216.

  PMID: 39724000 BACKGROUND

• Nakamichi K, Stacey A, Mustafi D. Targeted long-read sequencing allows for rapid identification of pathogenic disease-causing variants in retinoblastoma. Ophthalmic Genet. 2022 Dec;43(6):762-770. doi: 10.1080/13816810.2022.2141797. Epub 2022 Nov 3.

  PMID: 36325802 BACKGROUND

Related Links

• Related Info

Biospecimen

Retention: SAMPLES WITH DNA

Extract DNA from saliva or blood samples

MeSH Terms

Conditions

Retinoblastoma; Recurrence

Condition Hierarchy (Ancestors)

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

Study Officials

• Debarshi Mustafi, MD PhD

  University of Washington

  PRINCIPAL INVESTIGATOR

• Andrew W Stacey, MD

  University of Washington

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Debarshi Mustafi, MD PhD

CONTACT

206-683-6305; debarshi@uw.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Assistant Professor: School of Medicine, Ophthalmology

Study Record Dates

• First Submitted: December 5, 2024
• First Posted: December 10, 2024
• Study Start: March 16, 2026
• Primary Completion (Estimated): January 1, 2030
• Study Completion (Estimated): January 1, 2031
• Last Updated: March 18, 2026

Record last verified: 2026-03

Locations

US (1)