An observational study in Severe Aplastic Anemia, Telomere Biology Disorders and Inherited Bone Marrow Failure Syndromes, sponsored by National Heart, Lung, and Blood Institute (NHLBI). Recruiting at 1 site in United States. Open to participants aged 2 Years to 99 Years. Per ClinicalTrials.gov, last updated 2026-11-03.
Sponsored by National Heart, Lung, and Blood Institute (NHLBI) · Observational
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.
...
Study Description: This study will allow for the long term follow up of patients with acquired and inherited bone marrow failure, both treated and untreated.
Objectives:
Primary Objective
The primary objective is to characterize disease and treatment related long-term outcomes in subjects with inherited or acquired marrow failure.
Secondary Objectives
Tertiary/Exploratory Objectives
Endpoints:
Primary Endpoints:
Cohort 1 (SAA): Rate of relapse and clonal evolution in previously treated subjects.
Cohort 2 (Other Marrow Failure): Rate of progression (cytopenias or clonal evolution) requiring therapeutic intervention.
Cohort 3 Telomere Biology Disorders (TBD): 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 subjects and looking at their overall contribution to morbidity and mortality.
Cohort 4 Inherited Bone Marrow Failure (IBMF): Rate of progression to transfusion dependent marrow failure, marrow failure requiring therapeutic intervention (such as medical therapy or HSCT) or the progression to hematological or solid malignancy.
Secondary Endpoints:
Cohort 1 (SAA):
Cohort 2 (Other Marrow Failure):
Cohort 3 (TBD):
Cohort 4 (IBMF):
371 studies on the registry are indexed under Anemia, Aplastic; 98 are open to participants now.
This study's planned enrollment of 1,000 is above the median of 100 across 64 observational studies indexed under Anemia, Aplastic.
Browse Anemia, Aplastic studies →National Heart, Lung, and Blood Institute (NHLBI) is the lead sponsor of 1,143 studies on the registry; 71 are open to participants now.
Of its 58 completed or terminated interventional studies of FDA-regulated products, 51 (88%) have results posted.
Counted across the registry records on this site, refreshed daily.
Subjects with Severe Aplastic Anemia, other acquired marrow failure syndromes, and inherited marrow failure syndromes. Family members of subjects with either suspected or confirmed inherited bone marrow failure.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
To be eligible to participate in this study, an individual must meet all of the following criteria. Subjects and their family members who undergo screening but ultimately do not meet criteria for cohorts 1-5 will be removed from the study. Subjects may forgo screening and sign directly onto cohorts 1-5 if they meet criteria based on either prior NIH testing or external examinations. Family members will only be asked to be screened for participation onto this study after confirmation of eligibility by an affected participant.
Cohorts 1-4
Presence of a pathogenic, likely pathogenic, or known family mutation in a telomere maintenance gene
OR
If mutation negative or VUS, telomere length \<10th percentile in lymphocytes with at least two clinical features: 1) cytopenia ( \<10g/dL or ANC \<1.5x10\^9 or \<100), 2) documented liver fibrosis by histology OR abnormal liver US / fibro scan consistent with fatty liver or fibrosis), 3) documented pulmonary fibrosis by histology / radiology OR PFTs showing \<80% or DLCO \<60%, 4) family history of: marrow failure, myeloid , liver fibrosis or lung fibrosis.
Cohort 5
EXCLUSION CRITERIA:
-None
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
From a breathing test (spirometry): how much air you can blow out in the first second. Often given as a percentage of what is expected for your age, height and sex.
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Investigational drug or device
A drug or device being studied in a clinical trial.
It may be new, or already approved and being studied for another use, dose or form. Criteria often leave out people who took part in another study of one within a recent period, commonly 30 days or five half-lives.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hemoglobin (Hb)
The protein in red blood cells that carries oxygen. A low level is anaemia, which can cause tiredness and breathlessness. Measured in g/dL or g/L (9 g/dL is 90 g/L).
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Platelets
Blood cells that help blood clot. Too few raises the risk of bleeding and bruising. A usual adult range is about 150–400 × 10⁹/L (150,000–400,000 per µL); each lab has its own reference range.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
FEV1
From a breathing test (spirometry): how much air you can blow out in the first second. Often given as a percentage of what is expected for your age, height and sex.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Cancer (malignancy)
Malignancy means cancer. Criteria about another or earlier malignancy ask whether you have had a different cancer, usually within a set number of years.
Some are commonly allowed, such as treated skin cancers other than melanoma and early cancers removed completely — check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Severe Aplastic Anemia(SAA): Age 2 and older; Previous diagnosis of bone marrow failure
Other Marrow Failure: Age 2 and older; Previous diagnosis of bone marrow failure;
Telomere Biology Disorders(TBD): Age 2 and older; Previous diagnosis of bone marrow failure
Inherited Bone Marrow Failure(IBMF)Syndromes: Age 2 and older; Previous diagnosis of bone marrow failure
Family Screening: Age 2 and older; First degree family member with a known or suspected inherited bone marrow failure syndrome
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
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.
Time frame: 20 years
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...
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.
Time frame: 20 years
Cohort 1: Rate of relapse and clonal evolution in previously treated patients
Rate of relapse and clonal evolution in previously treated patients
Time frame: 20 years
Cohort 2: Rate of progression requiring therapeutic intervention
Rate of progression (cytopenias or clonal evolution) requiring therapeutic intervention.
Time frame: 20 years
Plan to share: Undecided — This is a new requirement and the team has yet to discuss the sharing of IPD.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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