Circular extrachromosomal DNA in high‑risk medulloblastoma
Investigation of ecDNA as a driver of intratumoral heterogeneity and treatment resistance in high-risk medulloblastoma
['FUNDING_R01'] · SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE · NIH-11159744
Researchers are looking at whether tiny circular pieces of DNA outside chromosomes help tumors in children with high‑risk medulloblastoma become different inside and resist treatment.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE (nih funded) |
| Locations | 1 site (LA JOLLA, UNITED STATES) |
| Trial ID | NIH-11159744 on ClinicalTrials.gov |
What this research studies
The team analyzed whole genome data from a large group of medulloblastoma tumor samples and found circular extrachromosomal DNA (ecDNA) in about 18% of cases, linked to worse outcomes. They will use computational methods to map ecDNA and lab experiments, including CRISPR and drug tests, to see how ecDNA changes tumor cells and causes treatment resistance. The work combines data from many hospitals with lab models to connect tumor DNA patterns to how tumors evolve and respond to therapies. The goal is to pinpoint the mechanisms by which ecDNA drives tumor diversity and treatment failure in children.
Who could benefit from this research
Good fit: Ideal candidates would be children with high‑risk or recurrent medulloblastoma whose tumor tissue and clinical data can be shared with the research team, or families interested in future trials based on ecDNA findings.
Not a fit: Patients without medulloblastoma, those with low‑risk disease unlikely to harbor ecDNA, or those unable to provide tumor samples are unlikely to benefit directly from this work in the short term.
Why it matters
Potential benefit: If successful, this work could explain why some children's medulloblastomas resist treatment and suggest new biomarkers or drug targets to improve outcomes.
How similar studies have performed: ecDNA has been tied to oncogene amplification and treatment resistance in several other cancers, but its role in medulloblastoma is less studied, so this approach is partly novel though informed by prior cancer research.
Where this research is happening
LA JOLLA, UNITED STATES
- SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE — LA JOLLA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CHAVEZ, LUKAS — SANFORD BURNHAM PREBYS MEDICAL DISCOVERY INSTITUTE
- Study coordinator: CHAVEZ, LUKAS
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 below.
Conditions: Cancer Genes, Cancer Patient, Cancer-Promoting Gene, Cancers