Actively Recruiting
The Natural History of Acquired and Inherited Bone Marrow Failure Syndromes
Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-06-01
1000
Participants Needed
1
Research Sites
N/A
Total Duration
On this page
AI-Summary
What this Trial Is About
Researchers are investigating the long-term effects of acquired and inherited bone marrow failure diseases, including Telomere Biology Disorders, on organ function. This observational study aims to better understand disease progression, survival, and the impact of treatments over an extended period. It also explores genetic factors, disease complications, and family genetic patterns to enhance knowledge about these rare conditions. Participants are grouped based on their specific diagnosis and undergo initial screening including medical history, physical exams, blood tests, and possibly bone marrow biopsy. Additional testing may include samples like cheek swabs, skin biopsies, imaging scans, lung and liver function tests, and specialized assessments. Follow-up visits occur every 1 to 3 years, where some tests and surveys about health status, treatments, and symptoms may be repeated. The study allows for up to 20 years of participation. During the study, participants will have regular evaluations by specialists and may undergo various procedures to monitor disease progression and organ health. Researchers will collect data on survival, treatment response, disease complications, and genetic information. Outcomes such as relapse rates, progression to transfusion dependence, and organ disease development are tracked. This long-term monitoring aims to provide comprehensive insights into the natural history and treatment effects of bone marrow failure syndromes.
CONDITIONS
Brief 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 or Telomere Biology Disorder
- Ability and willingness to attend the study center for consultation and testing
- Ability of participant or legally authorized representative to understand the study and provide written informed consent
- For Telomere Biology Disorder cohort: presence of a pathogenic mutation in a telomere maintenance gene or specific clinical and laboratory features as defined
- For family screening cohort: first degree family member with known or suspected inherited bone marrow failure syndrome
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
Complete this quick 3-step screening to check your eligibility
Your Study Journey
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Duration - Up to 20 years
Participants with acquired or inherited bone marrow failure are followed over time to assess disease progression, treatment responses, and related health outcomes.
Regular visits scheduled over the study period to assess health status and outcomes
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
E
Emma M Groarke, M.D.
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
Similar Trials
Frequently Asked Questions
Have more questions? Get in touch with our team for quick support
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here