Recruiting

Genomic Profiling

Sponsor:

Dana-Farber Cancer Institute

Code:

NCT04968834

Conditions

Leukemia

Myelodysplastic Syndromes

Myeloproliferative Syndrome

Eligibility Criteria

Sex: All

Age: 0 - 30

Healthy Volunteers: Not accepted

Interventions

Genomic profiling

Study Details

Brief summary:

This research study is a genomic profiling and repository study for children and young adults who have leukemia, myelodysplastic syndrome (MDS) or myeloproliferative syndrome (MPS). Genes are the part of cells that contain the instructions which tell cells how to make the right proteins to grow and work. Genes are composed of DNA letters that spell out these instructions. Genomic profiling helps investigators understand why the disease develops and the instructions that led to its development. Understanding the genetic factors of the disease can also help investigator understand why the disease of some people can respond to certain therapies differently than others.

The genomic profiling will be performed using bone marrow and blood samples that either have already been obtained during a previous clinical procedure or will be obtained at the time of a scheduled clinical procedure. Studying the genetic information in the cells of these samples will provide information about the origin, progression, and treatment of leukemia and myeloproliferative syndromes and myelodysplastic syndrome. Storing the bone marrow and blood samples will allow for additional research and genomic assessments to be performed in the future.

Conditions

Leukemia

Myelodysplastic Syndromes

Myeloproliferative Syndrome

Study ID

NCT04968834

Start date

Jun 11, 2021

Status verified date

Jul, 2026

Completion date

Jun, 2033

Anticipated

Primary completion date

Jun, 2033

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 30

Healthy Volunteers: Not accepted

Inclusion Criteria:

  • Age: birth to < 30 years of age
  • Diagnosis:

\-- Patient with acute leukemia, chronic leukemia, MDS/AML, myelodysplastic syndrome or myeloproliferative syndromes. Disease can be newly diagnosed or relapsed/refractory.
  • Pathology Criteria:

\-- Histologic confirmation of leukemia or myelodysplastic syndrome (MDS) or myeloproliferative syndrome (MPS) at the time of diagnosis or recurrence
  • Specimen Criteria:

  • Sufficient sample available for genomic profiling OR bone marrow aspirate/blood draw planned for clinical care which is anticipated to allow collection of minimum specimen for testing (See Section 6.1 for description of specimen requirements)

Exclusion Criteria:

\- Insufficient leukemia or MDS specimen available for profiling from diagnosis or recurrence (See Section 6.1); or bone marrow evaluations NOT planned for clinical care; or peripheral blast percentage <20%, or clinical blood draw not planned

Study Design

Enrollment

300 participants

Anticipated

Interventions and Outcome Measures

Arms

GENOMIC PROFILING AND SPECIMEN BANKING REGISTRATION ARM

The research study procedures include screening for eligibility, reviewing and signing this consent form, collecting patient information and clinical data, obtaining previously collected bone marrow and blood samples, and completing a brief optional Household Survey. Bone marrow and blood samples may also be collected in the future as part of your routine clinical procedures

Interventions

Genomic profiling

Genomic profiling using CLIA assay

Primary outcome measure

  • Number of Patients Enrolled for Genomic Profiling-Pediatric Leukemia [ Time Frame: 3 Years ]

Central Contacts and Locations

Central contacts

Yana Pikman, MD

(617) 632-4754yana_pikman@dfci.harvard.edu

Locations

Connecticut Children's Medical Center

Recruiting

Hartford, Connecticut, United States, 06106

Contacts

Natalie Bezler, MD

Nbezler@connecticutchildrens.org

Maine Medical Center

Recruiting

Portland, Maine, United States, 04102

Contacts

Sei Sze, MD

Sei.Sze@mainehealth.org

Dartmouth-Hitchcock

Recruiting

Lebanon, New Hampshire, United States, 03756

Contacts

Angela Ricci, MD

angela.m.ricci@hitchcock.org

Albany Medical Center

Recruiting

Albany, New York, United States, 12208

Contacts

Jessica Geaney, MD

geaneyj@amc.edu

Lifespan Cancer Institute

Recruiting

Providence, Rhode Island, United States, 02903

Contacts

Jennifer Welch, MD

jwelch@lifespan.org

University of Vermont Medical Center

Recruiting

Burlington, Vermont, United States, 05401

Contacts

Jessica Heath, MD

Jessica.Heath@uvmhealth.org

More Information

Sponsor

Dana-Farber Cancer Institute

Last update posted

Jul 16, 2026

Last verified

Jul, 2026

Keywords

  • Leukemia
  • Myelodysplastic Syndromes
  • Myeloproliferative syndrome (MPS)

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Dana-Farber Cancer Institute on 2026-07-16.