Registry Study of Children and Adults Patients With Relapsed, Refractory, or Progressive Sonic Hedgehog Medulloblastoma Harboring U1 Mutation
Mohammad H. Abu Arja
Summary
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.
Description
This is a multicenter, retro- and prospective observational cohort registry study. The registry will collect prospective data on children and young adults between ≥3 and ≤50 years of age at diagnosis, who are diagnosed with relapsed, refractory, or progressive SHH medulloblastoma. Patients and their biological parents will be recruited for this study. In addition, retrospective data will be gathered on patients enrolled in the registry to understand prior therapies and treatment courses before enrollment. The local principal investigators will identify patients diagnosed at registry instituti…
Eligibility
- Age range
- 3–50 years
- Sex
- All
- Healthy volunteers
- No
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 tissu…
Locations (2)
- Baylor College of MedicineHouston, Texas
- MD Anderson Cancer CenterHouston, Texas