Patient Response to Immunotherapy Using Spliceosome Mutational Markers (PRISMM)

Johns Hopkins Medicine

Status

Active, not recruiting

Conditions

U2AF1 Gene Mutation

SF3B1 Gene Mutation

Spliceosome Mutation

SRSF2 Gene Mutation

Metastatic Solid Tumor

Treatments

Other: Recommendation for treatment with immunotherapy

Study type

Observational

Funder types

Other

Industry

Identifiers

NCT04447651

IRB00186535 (Other Identifier)

J1940

Details and patient eligibility

About

This study is being done to see if patients with metastatic solid tumors (hematologic malignancies and lymphoma excluded) who have a specific genetic mutation in patients' tumor (the SF3B1, U2AF1 or SRSF2 mutation), are more likely to respond to immunotherapy agents that are now commercially available.

Full description

This is a non-therapeutic study, meaning that while Johns Hopkins is providing a treatment recommendation based on participants' genetic information, participants and participants' oncologist will decide ultimately what to do, and participants' oncologist will monitor participants' day to day care while on therapy. Participation involves allowing the investigators access to participants' sequencing report and medical records, providing a blood sample (about 8 tablespoons) at baseline and possibly again after three months, and answering questionnaires. If participants join the study, a panel of experts (Johns Hopkins Molecular Tumor Board) will review participants' genetic information participants entered and make a determination regarding treatment recommendation. Blood will be collected at baseline irrespective of what treatment is recommended. If immunotherapy is recommended, the investigators may collect blood again at 3 months. Participants and participants' oncologist will ultimately decide if participants proceed with the recommend treatment or not; the recommendation made from Johns Hopkins is not binding in any way. Participants' oncologist will continue with usual care according to standard practices while participants are on therapy. The investigators will get health information and conduct questionnaires with participants and participants' oncologist to assess how participants are doing on therapy. The main risks are the discomforts of the blood draw (which are expected to be minor and not last), boredom from completing questionnaires and the risk that information may become known to people outside of the study. Participants may or may not benefit directly from being in the study and there is no payment for participation.

Enrollment

6 patients

Sex

All

Ages

18+ years old

Volunteers

No Healthy Volunteers

Inclusion criteria

Performance status eligible for immune checkpoint blockade as determined by local physician
Able to demonstrate histologically proven locally advanced or metastatic solid tumors (hematologic malignancies and lymphoma excluded)
genomic testing demonstrating a spliceosome mutation (SF3B1, U2AF1 or SRSF2)

Exclusion criteria

Local physician determines has known psychiatric or substance abuse disorders that would interfere with cooperation with the requirements of the trial
Local physician determines the patient has a history or current evidence of any condition, therapy, or laboratory abnormality that might confound the results of the trial, interfere with the subject's participation for the full duration of the trial, or is not in the best interest of the subject to participate