Clinical Trials

Although there are presently no clinical trials exclusively for Li-Fraumeni syndrome, individuals interested in participating in cancer studies and trials can explore the NCI Supported Clinical Trials database for relevant information. This resource provides valuable insights into related cancer research and ongoing trials, offering potential avenues for those affected by Li-Fraumeni syndrome to contribute to advancements in treatment and understanding of the condition.

Studies

The LiFT UP Study is a research project for individuals and families from around the world. The goal is to learn more about adults and children who have a change in the TP53 gene in their blood to better predict their specific cancer risks. This may be Li-Fraumeni syndrome (LFS) or something else, which we will examine in the LiFT UP Study. This is a collaborative study, so you may join even if you already participate in other LFS studies!

Researchers at the Dana-Farber Cancer Institute and the City of Hope are seeking international participation to learn more about LFS.  Learn how you can help, here:  LiFT Up Study  or LiFT Up Study Flyer

Clinical and Molecular Studies of Li-Fraumeni Syndrome and TP53-Associated Disorders

Philadelphia, Pennsylvania

This study collects and stores data and samples for the creation of a biobank in patients with Li-Fraumeni syndrome and TP53-associated disorders. Collecting and storing biospecimen samples and health and treatment information from patients with Li-Fraumeni syndrome and unaffected family members may help doctors learn more about Li-Fraumeni syndrome and facilitate future research and projects regarding TP53-associated disorders.

University of Pennsylvania/Abramson Cancer Center

Status: Active
Contact: Suzanne Patricia MacFarland
Phone: 215-590-1278
Children’s Hospital of Philadelphia
Status: Active
Contact: Suzanne Patricia MacFarland
Phone: 215-590-1278

Willingness to Participate in a Trial Comparing Standard Genetic Counseling versus Personalized Genetic Counseling

Houston, Texas

This study evaluates patients willingness to participate in a trial comparing standard genetic counseling versus personalized genetic counseling. Collecting information from patients may help researchers learn why patients may or may not take part in the future study that compares standard genetic counseling to personalized genetic counseling.

M D Anderson Cancer Center

Status: Active
Contact: Banu Arun
Phone: 713-792-2360

Hereditary Gastric Cancer Syndromes: An Integrated Genomic and Clinicopathologic Study of the Predisposition to Gastric Cancer

Bethesda, Maryland

Background: Gastric cancers are cancers of the stomach. Hereditary ones are passed from parent to child. Researchers want to gather data about hereditary gastric cancers. They want to learn about changes these cause in the body and about the genes involved. Objective: -To gather data about hereditary gastric cancer. Eligibility: – People at least 2 years old with personal or family history with a hereditary gastric cancer. – People at least 2 years old with gene changes that lead to such cancer or a lesion that may be hereditary. Design: – Participants will be screened in a separate protocol. – Participants will have: – Physical exam – Medical history – Blood tests – Scans – Photos of skin lesions and other findings – Gynecology consultation for women – Cheek swab (some participants) – For some participants, their relatives will be asked to join the study. – Some participants will be asked to allow the study to get stored tissue samples for relatives who have died. – Some samples will be sent to outside labs. All personal data will be protected. Samples will be destroyed when the study ends. – Participants will get the results of genetic testing. – Participants who cannot come to the NIH clinic may just give a cheek swab and have genetic testing done. – Some participants will be contacted for more testing.

National Institutes of Health Clinical Center
Status: Active
Contact: National Cancer Institute Referral Office
Phone: 888-624-1937

Clinical and Genetic Studies of Li-Fraumeni Syndrome

Bethesda, Maryland

Background: – Li-Fraumeni syndrome (LFS) is a genetic condition that increases the risk for some types of cancer. LFS may lead to cancer of the bone or connective tissue, breast, and brain. It may also increase the risk for certain types of leukemia and other cancers. The only known cause of LFS is a change (called a mutation ) in a gene known as TP53. However, not all people with LFS have a TP53 mutation. Researchers want to study other possible genetic causes of LFS, and factors that may increase or decrease cancer risk in people with the syndrome. Objectives: – To learn more about the types of cancers that occur in individuals with LFS. – To study the role of the TP53 gene in the development of cancer. – To look for other possible genes that cause LFS – To study the effect of LFS diagnosis on families. – To determine if environmental factors or other genes can change a person s cancer risk associated with LFS. Eligibility: – Individuals with a family or personal medical history of cancers consistent with LFS. – Individuals with a family or personal medical history of cancers that does not meet the diagnosis of LFS, but the history is suggestive for LFS (meets the diagnosis for the so-called Li-Fraumeni like syndrome) – Individuals with certain rare cancers – Individuals with a family or personal history of a TP53 gene mutation, with or without related cancer(s). Design: – Participants will fill out a medical history questionnaire and a family history questionnaire. – Blood samples will be collected for DNA and for storage. Cheek cell samples may be collected if blood cannot be obtained for DNA. Participants can choose to have or not have cancer screening with blood tests, imaging studies, and other exams. – Participants will complete questionnaires about their worries about cancer, stress levels, and coping strategies. Diet and physical activity questionnaires will also be given. Other psychological tests may be given as needed. – Participants will be monitored for several years, with regular followup visits to the National Institutes of Health, if indicated. Any changes in health or cancer status will be recorded.

National Institutes of Health Clinical Center

Status: Active
Contact: National Cancer Institute Referral Office
Phone: 888-624-1937