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Observational Study of Bone Marrow Failure Syndromes

This study aims to understand the long-term effects of acquired and inherited bone marrow failure syndromes, including Severe Aplastic Anemia and Telomere Biology Disorders (TBD). Researchers want to learn how these conditions and their treatments affect organ function over time. You may be able to join if you are 2 years or older and have been diagnosed with one of these conditions. First-degree family members may also be eligible. The study will track how the disease progresses, the need for treatments like blood transfusions or stem cell transplants, and the development of other health issues like lung or liver disease over 20 years. This is an observational study, meaning no new treatments are being tested.

Study design
This is an observational study planning to enroll 1000 participants. It is not testing any specific interventions.
What's involved
Participants will undergo screening, which includes a medical history, physical exam, and blood tests.
Compensation
Not stated in the trial record.
Follow-up
Participants will be followed for up to 20 years to observe long-term outcomes.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT05012111

Natural History of Acquired and Inherited Bone Marrow Failure Syndromes

Recruiting
Not specifiedAges 2–99Observational
National Heart, Lung, and Blood Institute (NHLBI)
~1,000 participants
Updated 2026-08-27 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Cohort 4: Rate of progression to transfusion dependent marrow failure, marrow failure requiring therapeutic intervention (such as medical therapy or HSCT) or the progression to hematological malignancy
Measured over 20 years
+3 more outcomes measured

Conditions

Severe Aplastic Anemia
Telomere Biology Disorders
Inherited Bone Marrow Failure Syndromes

Explore related trials

Aplastic AnemiaInherited Bone Marrow Failure SyndromeTelomere Biology DisorderTelomere lengthTelomere Maintenance Gene

Where it's being run

1 sites across 1 states
Maryland1

Study leadership

  • Emma M Groarke, M.D. · PRINCIPAL_INVESTIGATOR · National Heart, Lung, and Blood Institute (NHLBI)

Who to contact

Tania R Machado
[email protected]
(301) 661-1505
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

Age \>=2 years
Diagnosis of acquired or inherited bone marrow failure or ineffective hematopoiesis or TBD (see below for cohort 3 specific criteria)
Ability and willingness to come to the NIH CC for consultation and testing
Ability of subject or Legally Authorized Representative (LAR) to understand the investigational nature of the protocol and their willingness to sign a written informed consent document.
For cohort 3 - TBD:
Age \>= 2 years
First degree family member with a known or suspected inherited bone marrow failure syndrome from a patient enrolled on this or another NIH protocol as determined by a PI or AI
Ability and willingness to safely provide blood, buccal swab, or fibroblasts for testing as stated by subject
Ability of subject or Legally Authorized Representative (LAR) to understand the investigational nature of the protocol and the willingness to sign a written informed consent document.

Exclusion

None

What this trial measures

  • Cohort 4: Rate of progression to transfusion dependent marrow failure, marrow failure requiring therapeutic intervention (such as medical therapy or HSCT) or the progression to hematological malignancy20 years

    Rate of progression to transfusion dependent marrow failure, marrow failure requiring therapeutic intervention (such as medical therapy or HSCT) or the progression to hematological malignancy.

  • Cohort 3: Development of cytopenias, lung disease or liver disease, or (if present at baseline) characterization, and rate of progression of cytopenias, lung disease or liver disease in TBD patients and looking at their overall contribution to m...20 years

    Development of cytopenias, lung disease or liver disease, or (if present at baseline) characterization, and rate of progression of cytopenias, lung disease or liver disease in TBD patients and looking at their overall contribution to morbidity and mortality.

  • Cohort 1: Rate of relapse and clonal evolution in previously treated patients20 years

    Rate of relapse and clonal evolution in previously treated patients

  • Cohort 2: Rate of progression requiring therapeutic intervention20 years

    Rate of progression (cytopenias or clonal evolution) requiring therapeutic intervention.