Precision Medicine Study

August 13, 2026 updated by: Cesar Rodriguez Valdes, Icahn School of Medicine at Mount Sinai

Cancer Sequencing Guided Personalized and Precision Medicine Platform in Multiple Myeloma

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 (total n=100; approximately 50/year). 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. Technologies and methodologies are developing rapidly, varying on a near daily basis which pre-empts our ability to define analysis and interpretation techniques in detail. 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 (e.g., a technology that is not yet available at Mount Sinai), de-identified samples or data may be sent out to third parties for additional analysis.. All external 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 . 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 study team. This study is not intended to implement the findings on CS, only to report the results obtained to the study team.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.

Study Contact Backup

Study Locations

  • United States
    • New York
      • New York, New York, United States, 10029
        • Mount Sinai Health System

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

This study is open to interested patients with Multiple Myeloma (MM) of all genders and races from inside or outside Mount Sinai that will be undergoing tumor sampling (bone marrow or tissue) as part of their evaluation for salvage therapy. The research team will accept participants with a diagnosis of MM who self-refer, or are referred by their treating physician, who will be undergoing tumor biopsy (bone marrow or tissue) with the intention of receiving salvage systemic therapy for their MM. Interested individuals can contact the research team and learn more about the study. Potential participants would speak to one of the study staff over the phone, will be provided with further details about the study, pre-screened for eligibility, and set up to undergo informed consent.

Description

Inclusion Criteria:

  • Patients must be 18 years of age at the time of registration.
  • Participant must have an established diagnosis of relapsed Multiple Myeloma based on IMWG criteria, be willing to participate, and able to consent
  • Participant must have a treating physician who agrees to participate in the study
  • Participant will be undergoing a bone marrow biopsy or tumor biopsy as part of their standard of care.
  • Patients must be willing to participate in this study and able to sign informed consent.
  • Participants are not participating in any interventional clinical trial using systemic therapy directed towards control of MM.

Exclusion Criteria

  • Known diagnosis of AL amyloidosis, Waldenstrom Macroglobulinemia, POEMS, or Castleman´s disease.
  • Diagnosis of cancer other than myeloma or skin cancer (squamous cell or basal cell) that is ongoing or treated within the last 2 years.
  • Tumor sample inadequate or unavailable for analysis (e.g., due to insufficient number of tumor cells).
  • Patient will not be receiving systemic MM-directed chemotherapy/immunotherapy in the following 2 months from the time tumor biopsy is performed.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Participants with Multiple Myeloma
Participants who will undergo tumor biopsy for management of multiple myeloma (MM)

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Measure Description
Time Frame
Total number of somatic Single-nucleotide variants (SNVs) per patient
Time Frame: End of study at 30 months
The number of genetic alterations found in the genome through genetic sequencing and comparison to the most common genetic sequence. A given variant may describe an alteration that is benign, pathogenic, or of unknown significance.
End of study at 30 months

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Measure Description
Time Frame
Total number of somatic insertions (INS) per patient
Time Frame: End of study at 30 months
Total number of somatic insertions (INS) per patient. The number of instances where nucleotides have been erroneously added to the genome, as determined by genetic sequencing and comparison to the most common genetic sequence.
End of study at 30 months
Total number of somatic deletions (DEL) per patient
Time Frame: End of study at 30 months
The number of instances where nucleotides that have been erroneously omitted from the genome, as determined by genetic sequencing and comparison to the most common genetic sequence.
End of study at 30 months
Number of SNVs per megabase of the MM genome
Time Frame: End of study at 30 months
The number of genetic alterations detected in MM tumor cells through sequencing and comparison to the most common genetic sequence.
End of study at 30 months
Number of INS per megabase of the MM genome
Time Frame: End of study at 30 months
The number of instances where nucleotides have been erroneously added to the MM tumor genome, per length of DNA, as determined by genetic sequencing and comparison to the most common genetic sequence.
End of study at 30 months
Number of DEL per megabase of the MM genome
Time Frame: End of study at 30 months
The number of instances where nucleotides that have been erroneously omitted from the MM tumor genome, per length of DNA, as determined by genetic sequencing and comparison to the most common genetic sequence.
End of study at 30 months
Number of mutations per megabase among MM subgroups
Time Frame: End of study at 30 months
The number of genetic alterations detectable in >1 % or <1 % of the population, per length of DNA, among multiple myeloma (MM) subgroups, as determined by genetic sequencing and comparison to the most common genetic sequence.
End of study at 30 months
Number of mutations per megabase among genomic regions for all MM and mutational subgroups
Time Frame: End of study at 30 months
The number of genetic alterations detectable in >1 % or <1 % of the population, per length of DNA, by genetic region (i.e., promoter, coding region, and termination sequence), for all MM and mutational subgroups, as determined by genetic sequencing and comparison to the most common genetic sequence.
End of study at 30 months
Gene mutations identified
Time Frame: End of study at 30 months
The number and type of genetic alterations detectable in >1 % or <1 % of the population identified, as determined by genetic sequencing and comparison to the most common genetic sequence.
End of study at 30 months
Chromosomal abnormalities identified
Time Frame: End of study at 30 months
. The numbers and types of chromosomal abnormalities identified, as determined by genetic sequencing and comparison to the most common genetic sequence.
End of study at 30 months
Molecular signatures identified
Time Frame: End of study at 30 months
Number and type of sets of biomolecular features identified that could be useful in predicting the course of disease or response to therapeutic intervention among patients with MM and other cancers, as determined by sequencing, and gene set variation and targeted drug analysis.
End of study at 30 months
Established Prognostic markers identified
Time Frame: End of study at 30 months
The number and type of established prognostic markers identified. Evaluation of biological characteristics known to be useful in predicting the course of disease or response to therapeutic intervention among patients with MM and other cancers, as determined by sequencing and comparison to databases of known prognostic markers.
End of study at 30 months
Somatic variants identified as targets of FDA-approved drugs (pharmacogenomics variant data)
Time Frame: End of study at 30 months
The number and type of genetic alterations found in the genome that could be treated with FDA-approved therapies, as determined by sequencing and comparison to databases of known targets and associated FDA-approved drugs.
End of study at 30 months
Network-informed key driver variants identified
Time Frame: End of study at 30 months
Number and type of mutations known to lead to cancer cell transformation, growth, and spread in the body, as determined by genetic sequencing and comparison to the most common genetic sequence, and to databases of known cancer driver mutations. These mutations will be categorized as follows: those that are known targets of FDA-approved drugs, those that may be targets of drugs under development that are not yet FDA-approved, and those that may serve as targets for novel therapies.
End of study at 30 months
Transcriptome variations identified
Time Frame: End of study at 30 months
Number and type of transcriptome variations identified with potential for the development of novel therapeutics (cell-surface expressed proteins that appear amenable to vaccine development), as determined by sequencing, network modeling, and cancer transcriptome profiling.
End of study at 30 months
Germline mutations identified in cancer predisposition genes
Time Frame: End of study at 30 months
Number and type of germline mutations identified in cancer predisposition genes, as determined by genomic sequencing and comparison to the most common genetic sequence.
End of study at 30 months
FDA approved drugs available that block enzymes produced in those pathways identified
Time Frame: End of study at 30 months
The number and type of FDA-approved drugs available that block enzymes produced in those pathways identified by comparison of genomic and transcriptomic findings to databases of known FDA-approved drugs and associated targets.
End of study at 30 months
Treatment recommended by computational pipeline based on patient's clinical and genetic
Time Frame: End of study at 30 months
A listing of recommended treatments as determined by sequencing, analysis of the tumor microenvironment, and computational analysis.
End of study at 30 months
Germline whole exome sequencing profile
Time Frame: End of study at 30 months
The results of whole exome sequencing of the germline genome.
End of study at 30 months
Tumor genome whole exome sequencing profile
Time Frame: End of study at 30 months
The results of whole exome sequencing of the tumor genome.
End of study at 30 months
Tumor transcriptome profile
Time Frame: End of study at 30 months
The results of RNA sequencing of the tumor transcriptome.
End of study at 30 months
Single-cell sequencing profile
Time Frame: End of study at 30 months
The results of single cell sequencing analysis.
End of study at 30 months
Cytometric profile
Time Frame: End of study at 30 months
The results of the cytometry by time of flight (CyTOF) analysis.
End of study at 30 months
Signaling Pathways associated
Time Frame: End of study at 30 months
Signaling Pathways associated with each gene mutation, chromosomal abnormality and molecular signature, i.e. aging, defective DNA repair, and apolipoprotein B editing complex (APOBEC)/activation-induced deaminase activity, identified in Aim 1, as determined by sequencing and computational analysis.
End of study at 30 months
Enzymes associated with each signaling pathway identified
Time Frame: End of study at 30 months
Enzymes associated with each signaling pathway identified as determined by sequencing and computational analysis.
End of study at 30 months
Improvement of cancer sequencing-guided treatment recommendations by machine learning
Time Frame: End of study at 30 months
Use of artificial intelligence computing to implement cancer sequencing-based recommended therapies and improve accuracy of treatment prediction, to allow better interpretation of cancer sequencing data and advancement of the development of personalized and precision cancer therapies. Improvement will be measured by tracking the precision and accuracy of machine learning and evaluating the resulting data using statistical analysis.
End of study at 30 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Icahn School of Medicine at Mount Sinai

Collaborators

Collaborators

An organization other than the sponsor that provides support for a clinical study. This support may include activities related to funding, design, implementation, data analysis, or reporting.
National Cancer Institute (NCI)

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Principal Investigator: Cesar Rodriguez Valdes, MD, PhD, Icahn School of Medicine at Mount Sinai

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
July 17, 2024

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
April 9, 2026

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
April 9, 2026

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
March 23, 2024

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
March 23, 2024

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
March 29, 2024

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
August 17, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
August 13, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
June 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • STUDY-23-00503
  • GCO 19-0175 (Other Grant/Funding Number: Icahn School of Medicine at Mount Sinai)
  • 5R01CA244899 (U.S. NIH Grant/Contract)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Individual participant data that underlie the results reported in this article, after deidentification (text, tables, figures, and appendices).

IPD Sharing Time Frame

Beginning 9 months and ending 36 months following article publication.

IPD Sharing Access Criteria

Researchers who provide a methodologically sound proposal. To achieve aims in the approved proposal. Proposals may be submitted up to 36 months following article publication. After 36 months the data will be available in the University's data warehouse but without investigator support other than deposited metadata. Information regarding submitting proposals and accessing data may be found at (Link to be determined).

IPD Sharing Supporting Information Type

  • SAP

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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