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NCT Number: NCT04959097

Retinoblastoma Patient Clinical Database and Tissue Repository

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.

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Key information

Conditions

Retinoblastoma 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 Retinal Diseases Retinal Neoplasms Retinoblastoma Bilateral Retinoblastoma Unilateral

Age range

0 year–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

The Hospital for Sick Children (Toronto SickKids), Toronto, Ontario, Canada

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About this study

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:

  • Systematically and prospectively record accurate and complete data regarding the clinical presentation, treatment, and outcomes of patients diagnosed with RB.
  • Collect, bank, preserve, and analyze biomaterials including AH, blood and saliva from patients with RB.
  • Correlate phenotypic data with genotypic findings from human biomaterials in retinoblastoma patients to identify clinically relevant biomarkers

Who can participate

Healthy volunteers accepted: No

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

Inclusion criteria

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

Exclusion criteria

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

Treatment and study plan

Primary outcomes

  1. 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

    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

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

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

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

Secondary outcomes

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

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

    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

  2. Correlation of class of Seeding with presence of biomarkers

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

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

Study contacts

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

Jesse L Berry, MD

CONTACT

[email protected]

323-361-4510

Sponsors and collaborators

Lead sponsor

Children's Hospital Los Angeles

Other

Collaborators

  • National Cancer Institute (NCI)

Registry information

Important dates

Study start
2017
Primary completion
2028
Study completion
2030
First posted
Jul 13, 2021
Registry last updated
Apr 22, 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.

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