Protocol For Genomically Profiling, Collecting, Archiving And Distributing Blood And Bone Marrow Specimens From Children And Young Adults With Hematologic Malignancy

NCT ID: NCT04968834

Last Updated: 2025-06-12

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-06-11
• Study Completion Date: 2033-06-30

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.

Detailed Description

Pediatric patients with new diagnosis or relapsed/refractory acute leukemia, MDS/AML, chronic leukemia, myeloproliferative syndromes or myelodysplastic syndrome will be enrolled onto this study. At the time of enrollment, a sample of the leukemia will be submitted for genomic profiling using CLIA assay(s). This information will be returned to the treating oncologist. The study will collect follow up data on patient outcome and whether the genomic profiling influenced treatment.

It is expected that about 100 people each year will take part in this research study at 8 medical centers in the United States

Conditions

Leukemia; Myelodysplastic Syndromes; Myeloproliferative Syndrome

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

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

Genomic profiling

Intervention Type: GENETIC

Genomic profiling using CLIA assay

Interventions

Genomic profiling

Genomic profiling using CLIA assay

Intervention Type: GENETIC

Eligibility Criteria

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

• Maximum Eligible Age: 30 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Charles H. Hood Foundation

OTHER

Sponsor Role: collaborator

Rally Foundation for Childhood Cancer Research

OTHER

Sponsor Role: collaborator

Dana-Farber Cancer Institute

OTHER

Sponsor Role: lead

Responsible Party

Yana Pikman, MD

Principal Investigator

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Yana Pikman, MD

Role: PRINCIPAL_INVESTIGATOR

Dana-Farber Cancer Institute

Locations

Connecticut Children's Medical Center

Hartford, Connecticut, United States

Site Status: RECRUITING

Maine Medical Center

Portland, Maine, United States

Site Status: RECRUITING

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status: ACTIVE_NOT_RECRUITING

Dana Farber Cancer Institute

Boston, Massachusetts, United States

Site Status: ACTIVE_NOT_RECRUITING

Dartmouth-Hitchcock

Lebanon, New Hampshire, United States

Site Status: RECRUITING

Albany Medical Center

Albany, New York, United States

Site Status: RECRUITING

Lifespan Cancer Institute

Providence, Rhode Island, United States

Site Status: RECRUITING

University of Vermont Medical Center

Burlington, Vermont, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Yana Pikman, MD

Role: CONTACT

yana_pikman@dfci.harvard.edu

(617) 632-4754

Facility Contacts

Natalie Bezler, MD

Role: primary

Nbezler@connecticutchildrens.org

Sei Sze, MD

Role: primary

Sei.Sze@mainehealth.org

Angela Ricci, MD

Role: primary

angela.m.ricci@hitchcock.org

Jessica Geaney, MD

Role: primary

geaneyj@amc.edu

Jennifer Welch, MD

Role: primary

jwelch@lifespan.org

Jessica Heath, MD

Role: primary

Jessica.Heath@uvmhealth.org

Other Identifiers

20-302

Identifier Type: -

Identifier Source: org_study_id