A registry study to collect long-term treatment data from patients with aplastic anemia and other bone marrow failure syndromes

Bone marrow failure syndrome and aplastic syndromes comprise a group of rare disorders in which bone marrow function is impaired (bone marrow failure). Consequently, the production of various types of blood cells may be impaired (cytopenia), which can manifest as, among other things, anemia, increased susceptibility to infection (leukopenia), and an increased tendency to bleed (thrombocytopenia). Aplastic anemia is one such condition. In mild cases of aplastic anemia, a “watch-and-wait” approach may be recommended. Alternatively, immunosuppressive therapies and stem cell transplants are available. In addition to acquired forms of aplastic anemia, there are also congenital forms in which, among other things, genetic changes in the ends of the chromosomes (telomeres) can be detected (telomeropathies). Recent studies show that some patients diagnosed with acquired aplastic anemia actually have a congenital bone marrow failure syndrome, which, however, manifested late and atypically. To investigate this suspicion, telomere length and specific genes can be determined using specialized tests.

The aim of this registry study is the systematic collection of long-term treatment data and the performance of genetic testing. In addition, blood samples and, if necessary, other biomaterial samples will be collected and stored in a biomaterial bank to facilitate future scientific research. Furthermore, patients’ quality of life will be assessed using questionnaires. No new therapies will be investigated as part of this study.

Patients with a diagnosis or suspected diagnosis of bone marrow failure syndrome (aplastic anemia, congenital aplastic syndrome, congenital syndrome associated with cytopenias, unexplained cytopenias) are eligible to participate in this study. There is no minimum age for participation, and there are no explicit exclusion criteria.