Long-term follow-up of people with bone marrow failure diseases
Follows people with severe aplastic anemia or inherited marrow failure over many years.
Key facts
- Who runs it
- National Heart, Lung, and Blood Institute (NHLBI)
- Where
- Bethesda, United StatesSee the site
- Trial code
- Registry title
- Natural History of Acquired and Inherited Bone Marrow Failure Syndromes
- Status
- Recruiting
- People taking part
- 1,000 people, planned
- Started
- 25 Oct 2021
- Expected to end
- 4 Feb 2041
- Type of study
- Observational, 5 groups
- Record updated
- 3 November 2026
Who can take part
AI summary
From the trial's eligibility criteria. Machine-read from the registry text on this page, so it can be wrong. The registry text below and the trial team decide who can take part.
The trial is looking for people with acquired or inherited bone marrow failure or a Telomere Biology Disorder (TBD), to follow them for up to 20 years. First degree family members of enrolled patients can also join.
- Age
- 2 years and older (up to 99 Years).
- Sex
- All sexes.
- Disease stage
- Patients: a diagnosis of acquired or inherited bone marrow failure, ineffective blood cell production, or TBD. This includes severe aplastic anemia. Family members: a first degree relative with a known or suspected inherited bone marrow failure syndrome.
- Biomarker or test result
- For the TBD group: a harmful, likely harmful or known family mutation in a telomere maintenance gene. Or, without such a mutation, telomere length <10th percentile in lymphocytes plus at least two clinical features. These features are low blood counts (Hb <10g/dL or ANC <1.5x10^9 or platelets <100), liver scarring, lung scarring or FEV1 <80% or DLCO <60%, or a family history of these problems.
Main reasons for not taking part
- People who cannot or will not come to the NIH Clinical Center for visits and tests cannot join.
- People who cannot give written consent, themselves or through a legal representative, cannot join.
- Family members who are not first degree relatives of an enrolled patient cannot join.
The registry criteria, word for word
Show all 11 criteriaShow less
Who cannot take part
- -None
Other criteria
- INCLUSION CRITERIA:; 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
- 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:; 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 (Hb <10g/dL or ANC <1.5x10\^9 or platelets <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 FEV1 <80% or DLCO <60%, 4) family history of: marrow failure, myeloid malignancy, liver fibrosis or lung fibrosis; Cohort 5
- 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
Check if you might fit
Answer for yourself. This is not a decision: only the study team can say whether you can take part.
- Are you between 2 and 99 years old?
Where in United States
- National Institutes of Health Clinical CenterBethesda, United StatesContact: Tania R MachadoTaking people
About the trial
What the trial wants to find out
Background:
Read full original descriptionShow less
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.
...
The 5 groups in the trial
- Cohort 1
Severe Aplastic Anemia(SAA): Age 2 and older; Previous diagnosis of bone marrow failure
- Cohort 2
Other Marrow Failure: Age 2 and older; Previous diagnosis of bone marrow failure;
- Cohort 3
Telomere Biology Disorders(TBD): Age 2 and older; Previous diagnosis of bone marrow failure
- Cohort 4
Inherited Bone Marrow Failure(IBMF)Syndromes: Age 2 and older; Previous diagnosis of bone marrow failure
- Cohort 5
Family Screening: Age 2 and older; First degree family member with a known or suspected inherited bone marrow failure syndrome
Questions to ask the study team
- How often do I need to come in, and for how long each time?
- Are travel costs paid?
- Can I keep my own doctor?
- What happens if I want to stop?
Contact the study team: see the registry record → Contacts and Locations
Print a page for my doctorData and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Official title
- The Natural History of Acquired and Inherited Bone Marrow Failure Syndromes
- Plain-language title
- Long-term follow-up of people with bone marrow failure diseasesGenerated from the registry record. The registry title is the official one.
- AI summary
- From the trial's eligibility criteria. Read by machine on 14 November 2026.
- Fit questions
- Built from NCT05012111, who can take part
- Record updated
- 3 November 2026