Natural History of Acquired and Inherited Bone Marrow Failure Syndromes

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Heart, Lung, and Blood Institute (NHLBI)
Study ID
NCT05012111
Status
Recruiting
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Conditions

  • Inherited Bone Marrow Failure Syndromes
  • Severe Aplastic Anemia
  • Telomere Biology Disorders

Eligibility Criteria

Sex
ALL
Age
2 Years - 99 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
Oct 25, 2021
Status verified
Jun 2026
Primary completion
Feb 4, 2041
Completion
Feb 4, 2041

Study Design

Enrollment
1,000 participants (estimated)

Arms

  • Arm: Cohort 1
    Severe Aplastic Anemia(SAA): Age 2 and older; Previous diagnosis of bone marrow failure
  • Arm: Cohort 2
    Other Marrow Failure: Age 2 and older; Previous diagnosis of bone marrow failure;
  • Arm: Cohort 3
    Telomere Biology Disorders(TBD): Age 2 and older; Previous diagnosis of bone marrow failure
  • Arm: Cohort 4
    Inherited Bone Marrow Failure(IBMF)Syndromes: Age 2 and older; Previous diagnosis of bone marrow failure
  • Arm: Cohort 5
    Family Screening: Age 2 and older; First degree family member with a known or suspected inherited bone marrow failure syndrome

Primary Outcome Measure

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 [ Time Frame: 20 years ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892
For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)
[email protected]
800-411-1222

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By research site
National Institutes of Health Clinical Center· Bethesda, MD

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