Registry Study for Children and Adults Ages 3 to 50 With Relapsed or Progressive Sonic Hedgehog Medulloblastoma Featuring U1 Mutation

What this Trial Is About

Researchers are conducting a multicenter observational study to create a biobank for children and young adults aged 3 to 50 years diagnosed with relapsed, refractory, or progressive Sonic Hedgehog SHH medulloblastoma, focusing on those with a U1 gene mutation. This mutation affects tumor DNA splicing and may influence tumor mutation burden and treatment responses. The study aims to better understand SHH medulloblastoma biology and guide future therapies, especially for relapsed cases, with no direct benefits guaranteed to participants. Participants include patients treated at registry institutions, those treated elsewhere, and their biological parents. The study collects clinical data, treatment histories, imaging, and biological samples including tumor tissue and optional buccal swabs from parents. Retrospective and prospective data will be gathered and stored in a secure biobank. Advanced tests like RNA sequencing, PCR, methylation profiling, and whole genome sequencing will be performed on samples. Imaging data will be securely stored and de-identified. Participants involvement lasts about five years, during which their medical records, imaging, and tissue samples will be reviewed and analyzed. Data quality checks are performed regularly. The main outcome is detecting the U1 mutation using PCR or RNA sequencing. Secondary outcomes include comparing treatment outcomes by U1 mutation status. No safety assessments for adverse events are planned since this is an observational study.

Relapsed and Progressive Sonic Hedgehog Medulloblastoma With U1 Mutation Registry Study