Clinical Trials / Research Studies
SMARCA4 Gene Study
Why are we doing this research?
Cincinnati Children’s is conducting a research study, also known as a clinical trial, to learn more about the risk of developing cancer in individuals who carry disease-causing changes (mutations) in the SMARCA4 gene. These changes, which can be inherited from a parent, may lead to rare cancers. Genetic testing can find the presence of these gene changes.
Who can participate?
Children and adults with SMARCA4 gene mutations or a family history of this gene mutation.
Conditions
- Human Genetics
- Solid Tumors - All Other
- Brain and Spinal Tumor ATRT
- Adult - Solid Tumors - All Other
- Adult - Brain and Spinal Tumor ATRT
What will happen in the study?
This study will be completed remotely, and we expect that you will be in the study for about 3 months. These are the things that will happen during the study.
- A 45- to 60-minute telehealth visit with a genetic counselor, where you’ll answer questions about your family and personal medical history.
- Saliva sample collection for genetic testing, if necessary.
- We will mail you a saliva sample kit that you will mail directly to the genetic testing lab.
- An additional telehealth visit with a genetic counselor, if needed, to review genetic test results and discuss current recommendations for monitoring and risk reduction for SMARCA4 carriers.
What are the good things that can happen from this research?
You may not have a direct benefit from participating in the study. However, if you learn that you have a positive result, it may help you and your doctor prevent the related disease or catch it early so it can be treated. Your participation may also help others in the future, who are given choices to learn genetic test results.
What are the bad things that can happen from this research?
Possible risks and discomforts will be discussed with those interested in learning more about the study. You may feel anxiety or distress from genetic test results. A genetic counselor will be available to address any questions or concerns.
Will you/your child be paid to be in this research study?
Yes, you will receive up to $45 and genetic testing and counseling at no cost.
Study Doctor
Joseph Pressey, MDDivision of Human Genetics
Cincinnati Children's Hospital
3333 Burnet Avenue, Cincinnati, Ohio 45229-3026
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