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What is PRISMM?

A researcher in the lab

PRISMM is a novel research trial offered through Johns Hopkins, designed for patients with advanced cancers whose tumors have been sequenced and carry a specific rare mutation.

  • For now, only patients with metastatic breast cancer who have undergone sequencing and whose tumors display a rare “spliceosome” mutation (SF3B1) are eligible for the trial.

  • Spliceosome mutations occur rarely in solid tumors — about 4% in breast and pancreatic cancer, 19% in uveal melanoma, and with even lower rates in other cancers. They happen more frequently in blood cancers, and this study is also open to these patients. Because of how the spliceosome works, we think tumors carrying a spliceosome mutation may respond to immune therapy (see For Physicians for more detailed information).

    It’s hard to study how a rare mutation affects how a tumor responds to medication, because it’s hard to find enough patients to run a meaningful test.

    To help us solve this problem, we are searching for these rare patients on the internet. Once we find them, we will review their records with our experts here at Hopkins and, if appropriate, advise treatment with immune therapy. This in turn may help patients acquire insurance approval for the medicine. Meanwhile, patients’ own doctors will keep us updated on how patients are responding, which helps everyone understand these hard-to-study mutations.

  • Either you or your doctor can submit your information for screening. Just select Join PRISMMand answer the questions on our secure form, which is your informed consent for the trial. You will need your oncologist’s contact information, and an electronic copy of your molecular diagnostics report (common companies include Foundation Medicine and Caris).

    Once we receive your form, our study coordinators will review your submission. If you do not appear to have one of the mutations of interest, we will enter your information into our database. You will then join our community of generous patient volunteers, and we will keep you updated on PRISMM’s progress and on other cancer advances through our blog. If PRISMM expands to include a mutation that your tumor carries, we may notify you and invite you again to participate.

    If a review of your report reveals that you do indeed have a spliceosome mutation, we will reach out to enroll you in the trial; at this time we will answer any other questions you have, and ensure that you understand the study and can provide informed consent. We will then contact your local oncologist with information about the trial. If s/he agrees to partner with us, we will obtain further details about your history from him/her, and quickly refer all this information to the Hopkins molecular tumor board, a panel of genetic oncology experts.

    Meanwhile, we will also request that you provide blood samples for research analysis. The tumor board will use only your official report for its review, not the results of this blood test, so the blood draw will not delay their recommendations.

    The tumor board will thoroughly review your data, and offer advice about next steps in treatment. In some cases this could be some standard therapy, but if all other options have been tried, they may recommend immune therapy. In this case, our report can provide supplemental support to request coverage from your insurance company.

    Your oncologist will then keep us updated about your progress — you do not have to do anything further. By simply sending us your report and your blood sample, you are contributing generously to medical research, and we thank you!

  • Your personally identifiable data (name, date of birth, etc.) will be secured behind Hopkins’ firewall, in the standard database used by all of Hopkins’ clinical trials.

    Your genetic and clinical data will be used to develop recommendations about your treatment going forward. As part of this study, we may also directly and securely download your sequencing information (not just the report) from some companies. This allows your deidentified information (i.e., with your name and other personal identifiers removed) to be used for research purposes. In this case, you release any claim on the data and any patents, inventions or other financial gain or recognition that may result from studies using this genetic information.

Principal Investigator: Dr. Cesar Santa-Maria

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