Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumo… (NCT06725173) | Clinical Trial Compass
RecruitingNot Applicable
Detailed Phenotypic and Genotype Study to Correlate RB1 Mutations Relating to Primary Ocular Tumors and Secondary Extra-ocular Metastasis.
United States100 participantsStarted 2026-03-16
Plain-language summary
The goal of this observational study is undertake a detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene. Our research sequencing approach will allow advanced insight to for further detailed genotypic understanding of parent-of-origin for valuable insight into the genotype-phenotype relationship of this cancer syndrome.
Who can participate
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion Criteria:
* Patients with molecularly proven retinoblastoma due to RB1 or a typical clinical retinoblastoma phenotype with genetic screening pending.
* Able to give consent/parent or guardian able to give consent.
Exclusion Criteria:
* Patients unable or unwilling to undertake consent or clinical testing.
* Patients unwilling to donate a saliva or blood sample in order to establish the genetic cause of their condition.
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Since this study focuses on profiling the RB1 gene, can you explain what they might learn about my child's specific RB1 mutation and whether that information would actually influence how we manage their care going forward?
2This trial covers both unilateral and bilateral retinoblastoma, as well as cases that have spread outside the eye — given my child's specific diagnosis, does our situation fall within what this study is designed to look at, and would our genetic data be useful to the researchers?
3Because this is listed as a phenotypic and genotypic study rather than a treatment trial, does participating involve any procedures beyond what my child would already be having, such as additional biopsies or blood draws?
4If the genomic profiling from this study uncovers something unexpected about my child's RB1 mutation — like a higher risk of the cancer spreading outside the eye — how would that finding be shared with us, and would it change our current treatment plan?
5Are there standard genetic counseling or tumor-profiling options available to us outside of this trial that could give us similar information, so we can weigh whether enrolling in a research study is the right path for our family right now?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.