Clinical trial · Observational
Relapsed and Progressive Sonic Hedgehog Medulloblastoma With U1 Mutation Registry Study
Registry Study of Children and Adults Patients With Relapsed, Refractory, or Progressive Sonic Hedgehog Medulloblastoma Harboring U1 Mutation
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
The purpose of this study is to create a biobank for patients diagnosed with Sonic Hedgehog Medulloblastoma at Baylor College of Medicine/Texas Children's Cancer Center. A biobank is a facility that stores and manages biological samples (such as blood, tissue, or DNA) from individuals, along with detailed health information, for use in medical research to study diseases and develop new treatments. The investigators are requesting participants' permission to add their information and samples to this biobank. Being in this research study is voluntary; it is the participant's choice. If the participant joins this study, they can still stop at any time. If the participant decides to participate, the investigators will review the participant's clinical medical records, demographics, treatment history, family history, and imaging. The investigators will also collect biological samples from the participant and the biological parents' buccal swabs (optional). The participation in this biobank will last about 5 years from the decision to participate. Why am I being asked to participate? The participant or their child is invited to participate in this study if the participant or their tumor may have a U1 mutation. U1 mutation is associated with an error in the gene that splices the tumor DNA, leading to random splicing that may increase the tumor mutation burden and generate novel tumor neoantigens (targets). Studying the U1 mutation will enable the investigator to design more effective therapies and guide future treatments for patients with relapsed or refractory sonic hedgehog medulloblastoma, thereby improving their outcomes and quality of life. Moreover, the investigators aim to determine whether germline mutations inherited from parents may increase the risk of medulloblastoma in their offspring. The participant will receive no direct benefit from their participation in this study. However, participation in this study may help the investigators better understand SHH Medulloblastomas and benefit other patients in the future.
Conditions
Conditions (4)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Medulloblastoma, Childhood, Recurrent | Medulloblastoma | CURATED_BROADER | 0.80 |
| Medulloblastoma Recurrent | — | UNRESOLVED | — |
| Medulloblastoma, SHH-activated and TP53 Mutant | Medulloblastoma, SHH-Activated, TP53-Mutant | ALIAS | 0.90 |
| Medulloblastoma, SHH-activated and TP53 Wildtype | Medulloblastoma, SHH-Activated, TP53-Wildtype | ALIAS | 0.90 |
Interventions
Interventions (0)
Data not yet available
Design
Arms and outcomes
Arms (3)
- label
- Group 1
- description
- Patients treated at registry institutions
- label
- Group 2
- description
- Patients not treated at registry institutions
- label
- Group 3
- description
- Biological parents of a subject participating in Group 1 or 2
Primary outcomes (1)
- measure
- To describe the incidence of the U1 mutation in SHH medulloblastoma subtypes and verify the feasibility of U1 testing. The primary outcome will be detecting the U1 mutation by polymerase chain reaction (PCR) testing or RNA sequencing (RNAseq).
- timeFrame
- Through study completion, an average of 2 years
- description
- U1 mutation status, as determined by PCR, will be summarized in the overall sample and within each SHH medulloblastoma subtype with counts and percentages, along with the corresponding 95% confidence intervals. Feasibility Sensitivity, specificity, PPV, NPV, and accuracy of the new RNASeq diagnostic test will be estimated, utilizing PCR as the reference standard. Only complete cases will be utilized in the following estimations. Sensitivity will be estimated as the proportion of true positives out of all positive PCR tests while specificity will be estimated as the proportion of true negatives. Positive predictive value will be estimated as the proportion of true positives out of all positive RNASeq tests. NPV will be estimated as the proportion of true negatives out of all negative RNASeq tests. Finally, accuracy will be estimated as the proportion of true positives and true negatives out of all tests completed.
Eligibility
Eligibility (as posted)
- Sex
- All
- Minimum age
- 3 Years
- Maximum age
- 50 Years
Show eligibility criteria text
Inclusion Criteria: For Groups 1 and 2, subjects are eligible to be included in the study only if all of the following criteria are met: * Age Patients must be ≥ 3 and ≤ 50 years of age at the time of initial diagnosis. * Diagnosis Participants must have a diagnosis of SHH medulloblastoma by histologic or molecular criteria at the time of original diagnosis or relapse. * Disease status The disease must be recurrent, refractory, or progressive following therapy, including radiotherapy and chemotherapy. * Available tumor tissue sample for U1 testing Participants must have available tumor tissue samples to be tested for the U1 mutation. For Group 3, biological parent(s) of a subject participating in Group 1 or 2 are eligible. Exclusion Criteria: Subjects not meeting the inclusion criteria will be excluded.
References
Publications (0)
Data not yet available