Targeted Sequencing for Eye Cancer
What You Need to Know Before You Apply
What is the purpose of this trial?
This trial aims to understand how genetic changes in the RB1 gene relate to eye cancer and its spread to other parts of the body. Researchers examine both the physical traits (phenotype) and genetic makeup (genotype) of individuals with these conditions. Those diagnosed with retinoblastoma (a type of eye cancer) due to an RB1 mutation, or those awaiting genetic test results, might be suitable for this study. Participants must provide a saliva or blood sample for genetic analysis.
As an unphased study, this trial offers a unique opportunity to contribute to scientific understanding and potentially benefit future patients with similar conditions.
Do I need to stop my current medications for the trial?
The trial information does not specify whether you need to stop taking your current medications. It's best to discuss this with the trial coordinators or your doctor.
What prior data suggests that this sequencing method is safe?
Research has shown that targeted long-read sequencing is a method used to study the RB1 gene, linked to retinoblastoma, a type of eye cancer. Although specific safety data for this method is not available, similar genetic sequencing techniques are generally safe. These techniques examine DNA to identify specific changes related to diseases.
Targeted long-read sequencing is non-invasive, involving no drugs or treatments entering the body, which reduces the risk of side effects. Available studies have reported no harmful effects.
This technique is often used to understand the genetic causes of diseases, aiding in the development of better treatments. For personalized information, discussing concerns with the trial team is recommended.12345Why are researchers excited about this trial?
Researchers are excited about this trial because it aims to explore the genetic links between RB1 mutations and the development of primary ocular tumors and their potential spread beyond the eye. Unlike existing treatments that primarily focus on directly targeting cancer cells, this study seeks to understand the genetic factors that could influence the disease's progression. By examining these genetic connections, scientists hope to develop more personalized and precise treatment options, potentially leading to better outcomes for patients with retinoblastoma. This approach could pave the way for targeted therapies that address the root causes of the disease, rather than just its symptoms.
What evidence suggests that targeted long-read sequencing is effective for studying ocular and secondary cancers due to RB1 mutations?
Research has shown that a new method called targeted long-read sequencing holds promise for detecting changes in the RB1 gene. This technique can quickly identify many genetic changes that cause retinoblastoma, a type of eye cancer. Studies have also found it can trace the origin of these changes, which is crucial for understanding hereditary cancer risk. While this method identifies genetic changes, it does not directly predict outcomes like survival or eye preservation. Overall, this approach provides detailed genetic information that could guide future treatments.13467
Who Is on the Research Team?
Debarshi Mustafi, MD PhD
Principal Investigator
University of Washington
Andrew W Stacey, MD
Principal Investigator
University of Washington
Are You a Good Fit for This Trial?
Inclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Observational Study
Detailed phenotypic and genotypic study of patients with ocular and secondary cancers due to mutations in the RB1 gene
Follow-up
Participants are monitored for safety and effectiveness after the observational study
What Are the Treatments Tested in This Trial?
Interventions
- Targeted Long-read sequencing
How Is the Trial Designed?
1
Treatment groups
Experimental Treatment
Find a Clinic Near You
Who Is Running the Clinical Trial?
University of Washington
Lead Sponsor
National Eye Institute (NEI)
Collaborator
Citations
Germline RB1 Mutation in Retinoblastoma Patients
The study aimed to generate a stepwise method to reduce the workload of full-scale RB1 sequencing for germline mutation screening in retinoblastoma (RB) ...
Prognostic importance of direct assignment of parent ...
This study demonstrates the diagnostic potential of multiomic long-read profiling to unveil the parent-of-origin effect in hereditary cancer.
Targeted next generation sequencing of RB1 gene for the ...
We demonstrated for the first time that targeted NGS is an efficient approach for the identification of wide spectrum of pathogenic variants in RB patients.
4.
researchgate.net
researchgate.net/publication/365077300_Targeted_long-read_sequencing_allows_for_rapid_identification_of_pathogenic_disease-causing_variants_in_retinoblastoma(PDF) Targeted long-read sequencing allows for rapid ...
Targeted long-read genome sequencing offers a novel approach to resolve the diverse range of pathogenic variants in RB1 and provides haplotype ...
Mutational analysis of the RB1 gene in patients with ...
However, germline mutations did not appear to significantly predict patient outcomes regarding eye salvage, metastasis, and survival.
6.
nanoporetech.com
nanoporetech.com/resource-centre/solving-the-parent-of-origin-effect-in-retinoblastoma-to-determine-disease-severitysolving the parent-of-origin effect in retinoblastoma to ...
This work demonstrates parent-of-origin in disease can be resolved by phasing a disease variant with a differentially methylated signal in the genome.
LINE-1 mediated deletion resulting in germline retinoblastoma ...
As we did not have clinically validated long-read sequencing available, and in consideration of a targeted approach, we performed clinical RT- ...
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