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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.
Full description
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):
Enrollment
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Inclusion and exclusion 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
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 /
Cohort 5
or AI
EXCLUSION CRITERIA:
1,000 participants in 5 patient groups
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Central trial contact
Emma M Groarke, M.D.; Katherine C Roskom, R.N.
Data sourced from clinicaltrials.gov
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