Comprehensive Molecular and Clinical Evaluation of Pediatric and Adult MDS

NCT05350748 | Recruiting

• 2 other identifiers: 10000661000661-C
• Study Type: observational
• Target: 1,100
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Myelodysplastic syndromes (MDS) occur when the cells that make blood cells are abnormal. There are limited treatment options for MDS. Researchers want to learn more through this natural history study so they can develop better treatments. Objective: To study the natural course of MDS and MDS/myeloproliferative neoplasms (MPN) and collect biological samples that can help researchers understand the disease. Eligibility: People with suspected or confirmed MDS or MDS/MPN. Healthy donors are also needed. They can be people who are scheduled to donate bone marrow at NIH for a relative, or they may be providing bone marrow in another study. Design: Participants will be screened with a medical history. Participants will have a physical exam. They will give blood and urine samples. They will discuss their symptoms, medications, and ability to perform their normal activities. They will complete surveys about how they are feeling. Participants will have a bone marrow biopsy. A needle will be inserted through a small cut. Bone marrow will be removed. A small piece of bone may be removed. Participants may have an optional skin biopsy. Participants may give optional saliva and stool samples. They may collect these samples at home and mail them to NIH. Participants may undergo optional apheresis. One or two needles or intravenous (IV) lines will be placed in their arm, neck, or groin veins. Blood will be removed. A machine will separate out the white cells. The rest of the blood will be returned to the participant. Participants will be contacted for follow-up once a year for up to 20 years. Healthy donors will have marrow collected for this study during their scheduled procedure with no follow-up.

Conditions

Myelodysplastic Syndromes

Keywords

Heterogenous Stem Cell Disorders; Gene Mutations; Dysplasia; cytopenias; Malignancies; Acute Myeloid Leukemia; Natural History

Outcome Measures

Primary Outcomes (1)

• characterize the natural history of myelodysplastic syndromes (MDS) and to assess overall and progression free survival

  report the overall survival and progression status of participants

  5 years

Secondary Outcomes (1)

• acquire biospecimens from MDS patients and controls to perform comprehensive research analyses

  Ongoing throughout study

Study Arms (2)

Cohort 1

Participants with myelodysplastic syndromes and associated malignancies

Cohort 2

Participants (controls) without MDS or associated malignancies, contributing bone marrow

Eligibility Criteria

• Age: 1 Day - 120 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Either sex, any age for participants with MDS. Either sex, aged at least 1 month and \>=12kg for bone marrow controls.

You may qualify if:

• Either sex, any age.
• Histologically or cytologically suspected or confirmed myelodysplastic syndromes (MDS), myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN), MDS/myeloproliferative neoplasm with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T), myelodysplastic syndromes/myeloproliferative neoplasms unclassified (MDS/MPN-U), chronic myelomonocytic leukemia (CMML), atypical chronic myeloid leukemia (aCML), secondary acute myeloid leukemia (sAML) with antecedent MDS or MDS/MPN, or participants who have precursor conditions that are associated with a risk of progression to MDS, including but not limited to clonal hematopoiesis of indeterminate potential (CHIP) and clonal cytopenia of unknown significance (CCUS).
• Participants may have had any amount of prior therapy and may be receiving MDS-directed therapy at time of enrollment.
• Participants must have an identified primary oncologist, hematologist or generalist outside of NIH who agrees to manage participant care and any diagnostic findings provided by this study.
• Either sex, and must be eligible for marrow donation per NIH Clinical Center requirements.
• Must be scheduled for bone marrow harvest for clinical application (e.g., marrow donation); or, if being evaluated for malignancy, have a clinical bone marrow aspirate scheduled (e.g., to rule out bone marrow involvement).
• Stated willingness to comply with all study procedures and availability for the duration of the study.
• Ability of participant or parent/guardian to understand and the willingness to sign a written consent document.

You may not qualify if:

• Uncontrolled intercurrent illness, psychiatric illness, or other that would limit compliance with study requirements, or at the investigator s discretion.

Sponsors & Collaborators

• National Cancer Institute (NCI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Myelodysplastic Syndromes; Cytopenia; Neoplasms; Leukemia, Myeloid, Acute

Condition Hierarchy (Ancestors)

Bone Marrow Diseases; Hematologic Diseases; Hemic and Lymphatic Diseases; Leukemia, Myeloid; Leukemia; Neoplasms by Histologic Type

Study Officials

• Kathy L McGraw, Ph.D.

  National Cancer Institute (NCI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ashley E Carpenter

CONTACT

(240) 550-0492; carpentera@mail.nih.gov

Kathy L McGraw, Ph.D.

CONTACT

(240) 760-7134; kathy.mcgraw@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 21, 2022
• First Posted: April 28, 2022
• Study Start: August 18, 2022
• Primary Completion (Estimated): September 20, 2041
• Study Completion (Estimated): May 1, 2042
• Last Updated: May 8, 2026

Record last verified: 2026-05-06

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ICF
• Time Frame: Clinical data available during the study and indefinitely.@@@@@@@@@@@@Genomic data are available once genomic data are uploaded per protocol GDS plan for as long as database is active.
• Access Criteria: Data from this study may be requested by contacting the PI.@@@@@@@@@@@@Genomic data are made available via dbGaP through requests to the data custodians.

Locations

US (1)