Natural History of Acquired and Inherited Bone Marrow Failure Syndromes

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Aug 18, 2021

Keywords

ClinConnect Summary

This clinical trial is focused on understanding the long-term effects of bone marrow failure syndromes, including severe aplastic anemia and inherited conditions that affect blood cell production. Researchers want to learn more about how these diseases and their treatments impact overall health, particularly the function of organs over time. The study will involve people aged 2 years and older who have been diagnosed with these conditions, as well as their first-degree family members.

If you or a family member are eligible to participate, you can expect to undergo various health screenings, which may include blood tests, physical exams, and possibly a bone marrow biopsy, where a small sample of bone marrow is taken for analysis. Participants will be grouped based on their specific condition and will have follow-up visits every 1 to 3 years for up to 20 years. During these visits, you may repeat some tests and fill out surveys about your health and treatments. This study aims to gather valuable information to help improve understanding and care for those living with bone marrow failure syndromes.

Gender

ALL

Eligibility 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 \<10\^th 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:
• • -Allogeneic HSCT (except if cohort 3 - TBD)