Recruiting

Observational Study

Sponsor:

National Cancer Institute (NCI)

Code:

NCT05350748

Conditions

Myelodysplastic Syndromes

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

Study Details

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

Study ID

NCT05350748

Start date

Aug 18, 2022

Status verified date

Jul 21, 2026

Completion date

May 1, 2042

Anticipated

Primary completion date

Sep 20, 2041

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0 - 70+

Healthy Volunteers: Accepted

  • INCLUSION CRITERIA - MDS Participants
  • 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.

INCLUSION CRITERIA - Marrow Control Donor Participants

  • Either sex, and must be eligible for marrow donation per NIH Clinical Center requirements.
  • No history of hematological malignancies as listed as inclusion in 'Inclusion Criteria - MDS Participants' or current autoimmune disease.
  • 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).

INCLUSION CRITERIA - All Participants

  • 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.

EXCLUSION CRITERIA - All Participants

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

Study Design

Enrollment

1100 participants

Anticipated

Interventions and Outcome Measures

Arms

Cohort 1

Participants with myelodysplastic syndromes and associated malignancies

Cohort 2

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

Primary outcome measure

  • characterize the natural history of myelodysplastic syndromes (MDS) and to assess overall and progression free survival [ Time Frame: 5 years ]

Central Contacts and Locations

Central contacts

Danielle F Pinkiert, R.N.

(240) 858-7566danielle.pinkiert@nih.gov

Kathy L McGraw, Ph.D.

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

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact National Cancer Institute Referral Office

888-624-1937

More Information

Sponsor

National Cancer Institute (NCI)

Last update posted

Jul 23, 2026

Last verified

Jul 21, 2026

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by National Cancer Institute (NCI) on 2026-07-23.