Understanding long-term effects of bone marrow failure syndromes
The Natural History of Acquired and Inherited Bone Marrow Failure Syndromes
This study is looking at how bone marrow failure syndromes affect people over time to see how the disease and treatments change, focusing on individuals aged 2 and older.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Ages | 2 Years to 99 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT05012111 on ClinicalTrials.gov |
What this trial studies
This observational study aims to follow individuals diagnosed with acquired or inherited bone marrow failure syndromes, including severe aplastic anemia and telomere biology disorders, to gather long-term data on disease progression and treatment outcomes. Participants aged 2 years and older will undergo medical history assessments, physical exams, and blood tests, with some potentially receiving bone marrow biopsies. The study will explore various factors affecting disease outcomes, including genetic markers, organ function, and the impact of external factors like infections and pregnancy.
Who should consider this trial
Good fit: Ideal candidates include individuals aged 2 years and older diagnosed with acquired or inherited bone marrow failure syndromes or telomere biology disorders.
Not a fit: Patients with unrelated hematological conditions or those who do not meet the eligibility criteria for the study may not benefit.
Why it matters
Potential benefit: If successful, this study could provide valuable insights into the long-term management and treatment of bone marrow failure syndromes, improving patient outcomes.
How similar studies have performed: While there is limited long-term data on these specific syndromes, similar observational studies have provided valuable insights into other rare diseases, suggesting potential for success in this approach.
Eligibility criteria
Show full inclusion / exclusion 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. EXCLUSION CRITERIA: -None
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Emma M Groarke, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
- Study coordinator: Tania R Machado
- Email: tania.machado@nih.gov
- Phone: (301) 661-1505
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.