Understanding long-term effects of bone marrow failure syndromes

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

* 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 it's running

• National Institutes of Health Clinical Center
  Bethesda, Maryland, United States Recruiting

Study contacts

• Principal investigator: Bhavisha A Patel, M.D. — National Heart, Lung, and Blood Institute (NHLBI)
• Study coordinator: Tania R Machado
• Email: tania.machado@nih.gov
• Phone: (301) 661-1505

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Transplantation for inherited bone marrow failure disorders

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• Nucleoside treatment for telomere biology disorders

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• Bone marrow transplant for severe aplastic anemia

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• Hematopoietic cell transplant for severe blood disorders

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• Modified stem cell transplantation for severe aplastic anemia

  This study is testing a new way of doing stem cell transplants for people with severe aplastic anemia to see if it can help them live longer and reduce complications.

  Recruiting Phase 2 Hematology department of the 920th hospital · Kunming, Yunnan · NCT06378060

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.