Molecular and Clinical Analysis of Bone Marrow Failure: A Secondary Research Study

Launched by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE (NHLBI) · Aug 4, 2025

Keywords

ClinConnect Summary

This study is focused on understanding bone marrow failure syndromes, which are conditions where the bone marrow doesn’t produce enough healthy blood cells. These problems can happen because the body’s immune system attacks the bone marrow or due to inherited genetic issues. The research aims to explore the detailed changes in genes, proteins, and other cell features in people with these conditions, to better understand how the disease develops and how it affects blood cell production over time. By studying samples from patients and comparing them with healthy individuals, researchers hope to find links between these molecular changes and how patients respond to treatment or develop other related blood diseases.

People eligible for this study include those aged 2 years and older who have a diagnosed bone marrow failure syndrome, as well as healthy volunteers aged 8 and above. Participants will provide blood and bone marrow samples, which will be analyzed using advanced techniques to look closely at their cells and genetic material. Since this study uses samples and data already collected from previous research, participants won’t undergo new treatments or procedures as part of this trial. The goal is to use this information to improve understanding of these complex conditions and help guide better treatment options in the future.

Gender

ALL

Eligibility criteria

• • This study will utilize biospecimens and data with identifiers from up to 1,400 research participants with BMFS, aged 2 years and older, alongside age matched healthy volunteers aged 8 years and older.