RB Liquid Biopsy Biorepository (rbliqbx)

February 5, 2024 updated by: Jesse Berry, Children's Hospital Los Angeles

Retinoblastoma Patient Clinical Database, Liquid Biopsy and Tissue Biorepository

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.

Study Overview

Status

Recruiting

Conditions

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

Study Type

Observational

Enrollment (Estimated)

800

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Locations

  • United States
    • California
      • Los Angeles, California, United States, 90027
        • Recruiting
        • Children's Hospital Los Angeles
        • Contact:

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 second to 18 years (Child, Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-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.

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
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
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
through study completion, a minimum of 12 months after diagnosis and average of 24 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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
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
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
through study completion, a minimum of 12 months after diagnosis and average of 24 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital Los Angeles

Investigators

  • Principal Investigator: Jesse L Berry, MD, Children's Hospital Los Angeles

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

January 1, 2017

Primary Completion (Estimated)

December 31, 2028

Study Completion (Estimated)

December 31, 2030

Study Registration Dates

First Submitted

June 24, 2021

First Submitted That Met QC Criteria

July 1, 2021

First Posted (Actual)

July 13, 2021

Study Record Updates

Last Update Posted (Estimated)

February 7, 2024

Last Update Submitted That Met QC Criteria

February 5, 2024

Last Verified

February 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • CHLA-17-00248

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

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

IPD Sharing Time Frame

October 2023

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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