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AzTrials

RetinoblastomaNCT04959097

Retinoblastoma Patient Clinical Database and Tissue Repository

An observational study of Retinoblastoma and Retinoblastoma Bilateral, run by Children's Hospital Los Angeles at 9 sites in 2 countries.

Recruiting

Looking for participants now. Contact the study team or a site below to ask about taking part.

Sites and contacts
Official record
Search all trials

Trial 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. Read more about this study

Who is it for?
Ages 0 to 18 years
How many people
800 participants
Where
9 sitesin 2 countries
Study dates
1 Jan 2017to 31 Dec 2030
How long will I take part?
3 Years
Phase
Observational
Are there results?
Not yet: the study is under way

Key requirements

Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.

  • Ages 0 to 18 years
  • All sexes
  • No healthy volunteers
  • Child, Adult

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.

Who may be able to join

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

Who cannot join

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

Trial locations and contacts

9 sites in 2 countries. Contact the study team or a site near you to ask about taking part.

Jesse L Berry, MD contact

323-361-4510

jberry@chla.usc.edu

9 sites in 2 countries

United States8 sites, 8 recruiting

  • Emory University Children's Healthcare of ATL

    Atlanta, Georgia, 30322

    Sarinee Juntipwong, 404-778-4611, sarinee.juntipwong2@emory.edu

    Hans Grossniklaus, MD

    Recruiting

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

    Chicago, Illinois, 60611

    Hanta Ralay-Ranaivo, HRalay@luriechildrens.org

    Janice Lasky-Zeid, MD

    Recruiting

  • Children's Hospital Los Angeles

    Los Angeles, California, 90027

    Jesse Berry, MD, 323-361-4510, jberry@chla.usc.edu

    Recruiting

  • St. Jude Children's Research Hospital

    Memphis, Tennessee, 38105

    Dana Hawkins, dana.hawkins@stjude.org

    Matthew Wilson, MD

    Recruiting

  • Wills Eye Institute

    Philadelphia, Pennsylvania, 19107

    Lisa Cotelesa

    Carol Shields, MD

    Recruiting

  • Phoenix Children's Hospital

    Phoenix, Arizona, 85016

    Jennifer Nguyen, jnguyen5@phoenixchildrens.com

    Merrylees Dersch, MD

    Recruiting

  • Oregon Health & Science University: Casey Eye Institute

    Portland, Oregon, 97239

    Ann Lundquist, lundquia@ohsu.edu

    Alison Skalet, M.D., Ph.D

    Recruiting

  • Seattle Children's Hospital; University of Washington

    Seattle, Washington, 98101

    Jeff Stevens, Jeff.Stevens@seattlechildrens.org

    Andrew Stacey, M.D., M.S

    Recruiting

Other trials in United States

Canada1 site, 1 recruiting

  • The Hospital for Sick Children (Toronto SickKids)

    Toronto, Ontario, M5G 2L3

    Roxanne Noronha, roxanne.noronha@sickkids.ca

    Brenda Gallie, MD, FRCSC, CM, OOnt

    Recruiting

Other trials in Canada

About this study

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.

Read the detailed description

Retinoblastoma (RB) is a primary intraocular malignancy that forms in the retina of infants and toddlers. Traditionally, RB is diagnosed without tissue as direct tumor biopsy is prohibited due to risk of extraocular spread; tissue can only be obtained once an eye has been surgically removed.

Given this limitation, there are no eye-specific molecular biomarkers in current clinical practice for RB. The lack of in vivo molecular data without removing the eye limits our ability to prognosticate clinical outcomes and develop personalized treatment plans. It also limits our understanding of intratumoral dynamics throughout therapy.

The aqueous humor (AH) is a high-yield source of tumor-derived nucleic acid that can be utilized as a liquid biopsy in eyes with retinoblastoma. Detection of biomarkers from the AH may be used to prognosticate the likelihood of eye salvage and in the future may facilitate targeted, patient-centered therapies based on molecular biomarkers.

OBJECTIVES:

  1. Systematically and prospectively record accurate and complete data regarding the clinical presentation, treatment, and outcomes of patients diagnosed with RB.
  2. Collect, bank, preserve, and analyze biomaterials including AH, blood and saliva from patients with RB.
  3. Correlate phenotypic data with genotypic findings from human biomaterials in retinoblastoma patients to identify clinically relevant biomarkers
Keywords
Retinoblastoma, RB, Ocular oncology, Aqueous humor
Medical subject headings
Retinoblastoma

What is being measured

The primary outcome is the main question the study is designed to answer.

  1. 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

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

  2. 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

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

Secondary outcomes (2)

  1. Correlation of High-Risk Histopathologic Features with presence of biomarkers

    We aim to evaluate whether any identifiable molecular biomarkers in the aqueous or blood can predict the presence of high risk histopathologic features that are known to increase risk of metastatic disease

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

  2. Correlation of class of Seeding with presence of biomarkers

    We aim to evaluate whether any identifiable molecular biomarkers in the aqueous or blood are associated with the presence of type of seeding

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

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

  1. First posted13 Jul 2021
  2. Study start1 Jan 2017
  3. Primary completion31 Dec 2028 (estimated)
  4. Study completion31 Dec 2030 (estimated)

Resources

More details

For doctors and researchers: how the study is designed, who runs it, and its registry IDs.

Study design
Study type
Observational
Observational model
Cohort
Time perspective
Prospective
Enrolment
800 participants (estimated)
Target duration
3 Years
IDs, dates and publications
ClinicalTrials.gov ID
NCT04959097
Sponsor's protocol ID
CHLA-17-00248
Other IDs
5R01CA282759-02, NCI-2024-03774
Status last verified
Apr 2026
First submitted
24 Jun 2021
Last updated
22 Apr 2026
Results posted
No
Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
Individual data sharing
Yes: De-identified data will be available to other researchers via NIH GDS/dbGAP controlled databases.

Publications

  • 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.

    PubMed 29049475

  • 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.

    PubMed 31767439

  • 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.

    PubMed 30061186

  • 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.

    PubMed 32434859

  • 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.

    PubMed 32799607

  • 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.

    PubMed 33062393

  • 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.

    PubMed 33805776

Questions about this trial

What is this clinical trial studying?

An observational study of Retinoblastoma and Retinoblastoma Bilateral, run by Children's Hospital Los Angeles at 9 sites in 2 countries.

The full registered description is in the About this study section and the official record.

Who may be eligible to take part?

The sponsor lists 1 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.

Is this clinical trial currently recruiting?

The record says: looking for participants now, as of the sponsor's last update on 22 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.

Where is the study taking place?

The record lists 9 sites in United States, Canada. Whether a site is taking part right now should be confirmed with that site. See every site.

What are the possible benefits and risks?

They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.

Are results available for this study?

This study is still under way. Results are not available in the source record yet.

How can a doctor refer a patient or contact the research team?

Contact Jesse L Berry, MD (323-361-4510, jberry@chla.usc.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.

What does the primary outcome measure?

Correlation of Ocular Salvage (eye saved) with biomarkers (time frame: through study completion, a minimum of 12 months after diagnosis and average of 24 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.

Where can I read the original study information?

On the ClinicalTrials.gov record for NCT04959097, which also lists 7 linked publications.

Does a listing mean the treatment is approved or proven to work?

No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.

How often is this information updated?

AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Apr 2026.

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