Cancer screening with cell-free DNA in Li-Fraumeni Syndrome
Official title: Cancer screening with cell-free DNA in Li-Fraumeni Syndrome: Feasibility study prior to national trial
Funded at Children's Hosp of Philadelphia · NIH-11291983 · Data updated 2026-11-12
A new, patient-friendly screening approach using blood tests to look for cancer signals in people with Li-Fraumeni Syndrome, alongside standard imaging.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Children's Hosp of Philadelphia NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | July 16, 2026 |
| Project end | June 30, 2029 |
| Funding year | 2026 |
| Award (this year) | $427,064 |
| NIH project number | 1U34CA308743-01 |
| Project ID | NIH-11291983 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults and children with Li-Fraumeni Syndrome who are enrolled at participating centers and meet eligibility for ctDNA screening plus standard imaging.
✕Less likely to help
Some participants may not benefit if ctDNA screening does not detect cancers earlier than current methods or if false positives cause anxiety or unnecessary procedures.
What this research studies
This project aims to test whether adding a blood test that detects cancer DNA can help find cancers earlier in people with Li-Fraumeni Syndrome, potentially reducing reliance on imaging alone. It will plan and pilot a large randomized trial across many centers to see if ctDNA screening improves early cancer detection. The study is designed to be patient-centered, balancing benefits with anxiety, and to inform future screening guidelines for high-risk individuals. Participants would be adults and potentially children with LFS, recruited through multiple sites in the U.S., with close collaboration from patient advocacy groups.
Why it matters
Potential benefit: If successful, ctDNA screening could lead to earlier cancer detection with lower radiation exposure and possibly better survival for people with Li-Fraumeni Syndrome.
How similar studies have gone: Previous research shows promise for ctDNA in cancer detection, but this project plans a large-scale randomized trial to confirm benefit in LFS.
Where this research is happening
-
Children's Hosp of Philadelphia
Philadelphia, United States Active
Researchers
- Principal investigator: Macfarland, Suzanne Patricia — Children's Hosp of Philadelphia
- Study coordinator: Macfarland, Suzanne Patricia
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About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page.