Actively Recruiting
Natural History of Acquired and Inherited Bone Marrow Failure Syndromes
Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-05-06
1000
Participants Needed
1
Research Sites
1006 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
Background: Bone marrow failure diseases are rare. Much is known about the diseases at the time of diagnosis, but long-term data about the effects of the diseases and treatments are lacking. Researchers want to better understand long-term outcomes in people with these diseases. Objective: To follow people diagnosed with acquired or inherited bone marrow failure disease and study the long-term effects of the disease and its treatments on organ function. Eligibility: People aged 2 years and older who have been diagnosed with acquired or inherited bone marrow failure or Telomere Biology Disorder. First degree family members may also be able to take part in the study. Design: Participants will be screened with a medical history, physical exam, and blood tests. They may have a bone marrow biopsy and aspiration. For this, a large needle will be inserted in the hip through a small cut. Marrow will be drawn from the bone. A small piece of bone may be removed. Participants may also be screened with some of the following: Cheek swab or hair follicle sample Skin biopsy Urine or saliva sample Evaluation by disease specialists (e.g., lung, liver, heart) Imaging scan of the chest Liver ultrasounds Six-Minute Walk Test Lung function test Participants will be put into groups based on their disease. They will have visits every 1 to 3 years. At visits, they may repeat some screening tests. They may fill out yearly surveys about their medicines, transfusions, pregnancy, bleeding, and so on. They may have other specialized procedures, such as imaging scans and ultrasounds. Participation will last for up to 20 years. ...
CONDITIONS
Official Title
Natural History of Acquired and Inherited Bone Marrow Failure Syndromes
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age 2 years or older
- Diagnosis of acquired or inherited bone marrow failure, ineffective hematopoiesis, or Telomere Biology Disorder
- Ability and willingness to visit the NIH Clinical Center for tests and consultation
- Ability of participant or legally authorized representative to understand the study and provide written consent
- For Telomere Biology Disorder cohort: presence of a known mutation in a telomere maintenance gene or, if mutation negative, short telomere length with at least two clinical features such as cytopenia, liver fibrosis, lung fibrosis, or relevant family history
- For first-degree family members: age 2 years or older, related to a patient with known or suspected inherited bone marrow failure syndrome, able and willing to provide samples and consent
You will not qualify if you...
History of severe allergic reactions to study medication Currently pregnant or breastfeeding Recent participation in another clinical trial within the last 30 days Presence of uncontrolled medical conditions that could affect safety
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
National Institutes of Health Clinical Center
Bethesda, Maryland, United States, 20892
Actively Recruiting
Research Team
T
Tania R Machado
CONTACT
E
Emma M Groarke, M.D.
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
5
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