nctId: NCT06338150 id: STUDY-23-00503 id: GCO 19-0175 type: OTHER_GRANT domain: Icahn School of Medicine at Mount Sinai id: 5R01CA244899 type: NIH link: https://reporter.nih.gov/quickSearch/5R01CA244899 briefTitle: Precision Medicine Study overallStatus: NOT_YET_RECRUITING date: 2024-06 date: 2026-06 date: 2026-06 date: 2024-03-29 date: 2024-03-29 name: Icahn School of Medicine at Mount Sinai class: OTHER name: National Cancer Institute (NCI) briefSummary: This will be a 2 year study to evaluate and improve cancer sequencing as applied to the characterization of tumor molecular make-up and the identification of novel therapeutics (n=100). Participants who will undergo tumor biopsy for management of multiple myeloma (MM) will self-refer to the study or be referred by their treating physician. Participants will initially meet with a clinician to review study consents and provide medical, medication, and family history information. After informed consent, biospecimen samples from peripheral blood, cheek swab, and tumor samples from bone marrow (aspirate and biopsy), peripheral blood, or any mass/fluid containing tumor cells will be obtained (from procedures indicated as part of their standard oncology care) for cancer sequencing (CS) (whole exome sequencing of germline and tumor genomes, RNA sequencing of tumor transcriptome, single cell, and CyTOF analysis). CS data will be interpreted via somatic variation identification, network modeling, and cancer transcriptome profiling to facilitate mapping activity levels of genes to networks and for identifying genes activated or dysregulated in cancer cells. Sequencing and analysis will be performed at the Genomics Core Facility at the Icahn School of Medicine at Mount Sinai. In instances where internal sequencing capabilities do not allow for certain types of analysis, de-identified samples or data may be sent out to third parties for additional analysis. The study will be using GenPath, a division of BioReference® Health, LLC for this project which is a CLIA certified lab. All genetic tests will be performed in a CLIA certified lab and all tests will be FDA or NYS approved. The RNA Sequencing test will receive NYS Department of Health (Wadsworth Center) approval before results are provided to physicians and patients. Samples will be de-identified and processed by the Mount Sinai Human Immune Monitoring Core (HIMC) before being sent to an external CLIA-certified lab for sequencing and analysis. Interpretation will be performed by a multidisciplinary team that includes genomicists, pathologists, and clinicians familiar with the particular cancer diagnosed in the participant. Once results are available, they will be shared with the participant and treating physician during a follow-up results session and any findings obtained explained. This study is not intended to implement findings, only to report them. conditions: Multiple Myeloma studyType: OBSERVATIONAL observationalModel: COHORT timePerspective: PROSPECTIVE count: 100 type: ESTIMATED measure: Total number of somatic Single-nucleotide variants (SNVs) per patient measure: Total number of somatic insertions (INS) per patient measure: Total number of somatic deletions (DEL) per patient measure: Number of SNVs per megabase of the MM genome measure: Number of INS per megabase of the MM genome measure: Number of DEL per megabase of the MM genome measure: Number of mutations per megabase among MM subgroups measure: Number of mutations per megabase among genomic regions for all MM and mutational subgroups measure: Gene mutations identified measure: Chromosomal abnormalities identified measure: Molecular signatures identified measure: Established Prognostic markers identified measure: Somatic variants identified as targets of FDA-approved drugs (pharmacogenomics variant data) measure: Network-informed key driver variants identified measure: Transcriptome variations identified measure: Germline mutations identified in cancer predisposition genes measure: FDA approved drugs available that block enzymes produced in those pathways identified measure: Treatment recommended by computational pipeline based on patient's clinical and genetic measure: Germline whole exome sequencing profile measure: Tumor genome whole exome sequencing profile measure: Tumor transcriptome profile measure: Single-cell sequencing profile measure: Cytometric profile measure: Signaling Pathways associated measure: Enzymes associated with each signaling pathway identified measure: Improvement of cancer sequencing-guided treatment recommendations by machine learning sex: ALL minimumAge: 18 Years stdAges: ADULT stdAges: OLDER_ADULT facility: Mount Sinai Health System city: New York state: New York zip: 10029 country: United States name: Cesar Rodriguez Valdes, MD, PhD role: CONTACT email: Cesar.Rodriguez@mssm.edu name: Katherine Vandris role: CONTACT email: Katherine.Vandris@mssm.edu name: Cesar Rodriguez Valdes role: PRINCIPAL_INVESTIGATOR lat: 40.71427 lon: -74.00597 hasResults: False