NCT04959097

Brief Summary

Retinoblastoma (RB) is a primary eye cancer that forms in the back of the eye of infants and toddlers. Traditionally, RB is diagnosed without a biopsy; tumor can only be studied once an eye has been surgically removed. Given this limitation, we use aqueous humor (AH), the clear fluid in the front of the eye to detect specific markers, or information, that comes from the tumor itself.

Trial Health

80
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
800

participants targeted

Target at P75+ for all trials

Timeline
56mo left

Started Jan 2017

Longer than P75 for all trials

Geographic Reach
2 countries

9 active sites

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress67%
Jan 2017Dec 2030

Study Start

First participant enrolled

January 1, 2017

Completed
4.5 years until next milestone

First Submitted

Initial submission to the registry

June 24, 2021

Completed
19 days until next milestone

First Posted

Study publicly available on registry

July 13, 2021

Completed
7.5 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

December 31, 2028

Expected
2 years until next milestone

Study Completion

Last participant's last visit for all outcomes

December 31, 2030

Last Updated

April 22, 2026

Status Verified

April 1, 2026

Enrollment Period

12 years

First QC Date

June 24, 2021

Last Update Submit

April 17, 2026

Conditions

Retinoblastoma BilateralRetinoblastomaRetinoblastoma Unilateral

Keywords

RetinoblastomaRBOcular oncologyAqueous humor

Outcome Measures

Primary Outcomes (2)

  • Correlation of Ocular Salvage (eye saved) with biomarkers

    We aim to evaluate whether any identifiable molecular biomarkers (e.g. chromosomal alterations or tumor fraction) in the aqueous or blood can predict ocular salvage, or the likelihood of saving the eye with therapy

    through study completion, a minimum of 12 months after diagnosis and average of 24 months

  • Identification of RB1 (RB Transcriptional Corepressor 1) gene mutations from the AH liquid biopsy

    We aim to identify both somatic and germline RB1 gene mutations in the AH

    through study completion, a minimum of 12 months after diagnosis and average of 24 months

Secondary Outcomes (2)

  • Correlation of High-Risk Histopathologic Features with presence of biomarkers

    through study completion, a minimum of 12 months after diagnosis and average of 24 months (only if the eye is enucleated)

  • Correlation of class of Seeding with presence of biomarkers

    through study completion, a minimum of 12 months after diagnosis and average of 24 months

Eligibility Criteria

Age0 Years - 18 Years
Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64)
Sampling MethodNon-Probability Sample
Study Population

All patients, age 0 days to 18 years, with a diagnosis unilateral or bilateral retinoblastoma (RB) treated at CHLA who have biospecimens taken for research during the course of treatment.

You may qualify if:

  • All patients, age 0 days to 18 years, with a diagnosis unilateral or bilateral retinoblastoma (RB) seen at CHLA (Children's Hospital Los Angeles).

You may not qualify if:

  • Patients referred for second opinions only and not treated at CHLA for any reason.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (9)

Phoenix Children's Hospital

Phoenix, Arizona, 85016, United States

RECRUITING

Children's Hospital Los Angeles

Los Angeles, California, 90027, United States

RECRUITING

Emory University Children's Healthcare of ATL

Atlanta, Georgia, 30322, United States

RECRUITING

Ann & Robert H. Lurie Children's Hospital of Chicago

Chicago, Illinois, 60611, United States

RECRUITING

Oregon Health & Science University: Casey Eye Institute

Portland, Oregon, 97239, United States

RECRUITING

Wills Eye Institute

Philadelphia, Pennsylvania, 19107, United States

RECRUITING

St. Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

RECRUITING

Seattle Children's Hospital; University of Washington

Seattle, Washington, 98101, United States

RECRUITING

The Hospital for Sick Children (Toronto SickKids)

Toronto, Ontario, M5G 2L3, Canada

RECRUITING

Related Publications (7)

  • Berry JL, Xu L, Murphree AL, Krishnan S, Stachelek K, Zolfaghari E, McGovern K, Lee TC, Carlsson A, Kuhn P, Kim JW, Cobrinik D, Hicks J. Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma. JAMA Ophthalmol. 2017 Nov 1;135(11):1221-1230. doi: 10.1001/jamaophthalmol.2017.4097.

    PMID: 29049475BACKGROUND

  • Berry JL, Xu L, Polski A, Jubran R, Kuhn P, Kim JW, Hicks J. Aqueous Humor Is Superior to Blood as a Liquid Biopsy for Retinoblastoma. Ophthalmology. 2020 Apr;127(4):552-554. doi: 10.1016/j.ophtha.2019.10.026. Epub 2019 Oct 31.

    PMID: 31767439BACKGROUND

  • Berry JL, Xu L, Kooi I, Murphree AL, Prabakar RK, Reid M, Stachelek K, Le BHA, Welter L, Reiser BJ, Chevez-Barrios P, Jubran R, Lee TC, Kim JW, Kuhn P, Cobrinik D, Hicks J. Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma. Mol Cancer Res. 2018 Nov;16(11):1701-1712. doi: 10.1158/1541-7786.MCR-18-0369. Epub 2018 Jul 30.

    PMID: 30061186RESULT

  • Xu L, Polski A, Prabakar RK, Reid MW, Chevez-Barrios P, Jubran R, Kim JW, Kuhn P, Cobrinik D, Hicks J, Berry JL. Chromosome 6p Amplification in Aqueous Humor Cell-Free DNA Is a Prognostic Biomarker for Retinoblastoma Ocular Survival. Mol Cancer Res. 2020 Aug;18(8):1166-1175. doi: 10.1158/1541-7786.MCR-19-1262. Epub 2020 May 20.

    PMID: 32434859RESULT

  • Xu L, Shen L, Polski A, Prabakar RK, Shah R, Jubran R, Kim JW, Biegel J, Kuhn P, Cobrinik D, Hicks J, Gai X, Berry JL. Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes. Ophthalmic Genet. 2020 Dec;41(6):526-532. doi: 10.1080/13816810.2020.1799417. Epub 2020 Aug 17.

    PMID: 32799607RESULT

  • Polski A, Xu L, Prabakar RK, Kim JW, Shah R, Jubran R, Kuhn P, Cobrinik D, Hicks J, Berry JL. Cell-Free DNA Tumor Fraction in the Aqueous Humor Is Associated With Therapeutic Response in Retinoblastoma Patients. Transl Vis Sci Technol. 2020 Sep 30;9(10):30. doi: 10.1167/tvst.9.10.30. eCollection 2020 Sep.

    PMID: 33062393RESULT

  • Xu L, Kim ME, Polski A, Prabakar RK, Shen L, Peng CC, Reid MW, Chevez-Barrios P, Kim JW, Shah R, Jubran R, Kuhn P, Cobrinik D, Biegel JA, Gai X, Hicks J, Berry JL. Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy. Cancers (Basel). 2021 Mar 13;13(6):1282. doi: 10.3390/cancers13061282.

    PMID: 33805776RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Aqueous Humor, Blood, Saliva, Tumor

MeSH Terms

Conditions

Retinoblastoma

Condition Hierarchy (Ancestors)

Neoplasms, NeuroepithelialNeuroectodermal TumorsNeoplasms, Germ Cell and EmbryonalNeoplasms by Histologic TypeNeoplasmsNeoplasms, Glandular and EpithelialNeoplasms, Nerve TissueRetinal NeoplasmsEye NeoplasmsNeoplasms by SiteEye Diseases, HereditaryEye DiseasesRetinal Diseases

Study Officials

  • Jesse L Berry, MD

    Children's Hospital Los Angeles

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Jesse L Berry, MD

CONTACT

323-361-4510jberry@chla.usc.edu

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
3 Years
Sponsor Type
OTHER
Responsible Party
PRINCIPAL INVESTIGATOR
PI Title
Professor of Ophthalmology

Study Record Dates

First Submitted

June 24, 2021

First Posted

July 13, 2021

Study Start

January 1, 2017

Primary Completion (Estimated)

December 31, 2028

Study Completion (Estimated)

December 31, 2030

Last Updated

April 22, 2026

Record last verified: 2026-04

Data Sharing

IPD Sharing
Will share

De-identified data will be available to other researchers via NIH GDS/dbGAP controlled databases.

Time Frame
October 2023
Access Criteria
access via dbgap
More information

Locations

US(8)CA(1)