This is not a treatment trial. It is a registry/biobank that safely stores blood, tissue, and other samples, along with health information, to support research. This observational trial seeks to improve future treatments by collecting samples and health information from people ages 3–50 with relapsed, refractory, or progressive Sonic Hedgehog (SHH) medulloblastoma.
Description
Medulloblastoma is a brain cancer that starts in the cerebellum. About one in five childhood brain cancers is medulloblastoma, and the SHH subtype accounts for roughly 30% of cases. When the tumor returns or continues to grow after treatment, it’s called relapsed, refractory, or progressive. Standard treatment usually includes surgery, radiation and chemotherapy. Unfortunately, when the tumor relapses or does not respond to treatment, options are very limited.
A key focus is the U1 mutation, often found in SHH medulloblastomas, especially in patients with another gene change called TP53 mutation. This mutation disrupts normal cell processes and creates thousands of abnormal protein fragments, which may make these tumors behave differently and possibly respond to immune-based treatments like checkpoint inhibitors. It may also create other changes that could serve as new treatment targets.
This registry has three main goals:
Learn how often the U1 mutation occurs.
Collect information on treatments patients receive, including immunotherapy.
Store tumor samples for advanced studies such as genomics, RNA sequencing, and biomarker analysis.
Participants allow researchers to review medical records and collect samples (such as tumor tissue, blood, and cheek swabs). Some participants’ parents may also provide cheek swabs to study inherited factors. Samples may undergo tests like PCR and RNA-sequencing to check for the U1 mutation, plus broader analyses (methylation, whole-genome sequencing, spatial genomics, proteomics, and creation of model cell lines) to better understand the disease.
By building a high-quality, secure biobank and tracking outcomes, the study aims to learn how common the U1 mutation is, how best to detect it, and whether it relates to how patients do over time. These insights help design more precise, future treatments and may guide clinical trials—including those involving immune-based therapies.
Data are de-identified to protect privacy. Test results are research-only; if a finding is clearly clinically significant and you consented, it may be shared with your doctor for follow-up testing in a clinical lab.
Eligibility
• Age: 3 to 50 at original diagnosis • Diagnosis: SHH medulloblastoma by histology or molecular testing • Disease status: Relapsed, refractory, or progressive after prior therapy • Samples: Tumor tissue must be available for U1 testing • Parents: Biological parent(s) of eligible participants may join (optional) For full eligibility details, visit ClinicalTrials.gov.
