Relapsed and Progressive Sonic Hedgehog Medulloblastoma With U1 Mutation Registry Study
This study is creating a biobank, which is like a library for medical samples and information, for patients with a type of brain tumor called Sonic Hedgehog (SHH) medulloblastoma. Researchers want to understand more about a specific change in the tumor, called a U1 mutation, in patients whose medulloblastoma has come back or gotten worse. They will collect information and samples from people aged 3 to 50 who were diagnosed with SHH medulloblastoma. The main goal is to see how often this U1 mutation appears in different types of SHH medulloblastoma and to make sure they can reliably test for it. This study is observational, meaning researchers will collect information without giving new treatments. Your participation is voluntary, and you can stop at any time.
- Study design
- This is an observational registry study planning to enroll 300 participants. It will collect information both from the past and going forward.
- What's involved
- Not specified in the trial record.
- Compensation
- Not stated in the trial record.
- Follow-up
- The primary outcome of detecting the U1 mutation will be measured through study completion, which is an average of 2 years.
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Relapsed and Progressive Sonic Hedgehog Medulloblastoma With U1 Mutation Registry Study
At a glance
Conditions
NCT07242963
Where you'd take part
This study runs at 2 sites. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.
Baylor College of Medicine
Houston, Texasstudy coordinator listed
Recruiting
MD Anderson Cancer Center
Houston, Texasstudy coordinator listed
Recruiting
Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.
Study leadership
- Murali Chintagumpala, MD · STUDY_CHAIR · Baylor College of Medicine
- Michael D Taylor, MD, PhD · STUDY_CHAIR · Baylor College of Medicine
- Mohammad H Abu-Arja, MD, MSc · PRINCIPAL_INVESTIGATOR · Baylor College of Medicine
Who to contact
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Inclusion
What this trial measures
- 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).Through study completion, an average of 2 years
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.