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RBAllele: Retinoblastoma Genetics Study

About this study

Doctors do not fully know why some children with the eye cancer retinoblastoma get more sick than others. Some children also have a higher risk of getting other cancers later in life.

Many children with retinoblastoma have a change in their RB1 gene. A gene is a small piece of information in the body that tells cells how to grow and work. Most children with retinoblastoma do not have other family members with this cancer.

Genetic tests do not always show whether the RB1 change came from the mother or the father. But this information may be important for understanding what kinds of treatments may work better and if the patient has a higher risk for future cancers. Larger studies that follow children for a longer time are needed to better understand these risks.

In this study, researchers will collect a blood sample and/or saliva (spit) from people with retinoblastoma. These samples contain DNA, which is found in almost every cell in the body and it tells your body how to grow, develop, and function using structures called genes. Genes are passed down from parents to their children. Genes help explain why some people get certain diseases and why their health can be different from others. The DNA in the samples will be tested for genes specific to eye cancer.

In this study, researchers may look at all of a person’s DNA. This is called whole genome sequencing. It helps researchers understand how and why different eye cancers develop and grow, which may lead to new treatments.

Researchers will also review medical records each year during the study. This long-term follow-up helps them see how the disease changes over time. It also helps them learn more about health risks after treatment.

What we learn from this study may help guide future treatments. It may also help people with higher risk get early treatment if they have cancer in the future.

Eligibility overview

  • Retinoblastoma diagnosis or clinical features consistent with a germline RB1 change
  • Any age
  • Willingness to provide a blood and/or saliva sample
  • No history of bleeding disorders that would make blood collection unsafe

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The above information is intended to provide only a basic description about a research protocol that may be currently active at St. Jude. The details made available here may not be the most up-to-date information on protocols used by St. Jude. To receive full details about a protocol and its status and or use at St. Jude, a physician must contact St. Jude directly.

Overview

Full title:

RBAllele: Detailed Phenotypic and Genotype Study to Correlate RB1Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis

Study goal:

To study genetic and epigenetic features of the RB1 gene in retinoblastoma to understand how parent of origin relates to disease features and long-term risk.

Diagnosis:

Retinoblastoma

Age:

All ages

Clinical trial categories:

Retinoblastoma Genetic Syndromes

For physicians and researchers

Patients accepted to St. Jude must be referred by a physician or other qualified medical professional. Learn how St. Jude can partner with you to care for your patient.

 

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