RARE DISEASE
Rare acquired aplastic anemia
Rare acquired aplastic anemia
Rare acquired aplastic anemia
Drug discovery
1
drug
With orphan designation
Overview
Rare acquired aplastic anemia (aAA) is a life-threatening bone marrow failure syndrome characterized by pancytopenia and hypocellular bone marrow due to immune-mediated destruction of hematopoietic stem cells [1][6][11]. Triggered by dysregulated T-cell responses, viral infections, or environmental exposures, it leads to insufficient blood cell production [1][6][17]. Diagnosis requires bone marrow biopsy and exclusion of inherited syndromes [6][11]. First-line treatment includes immunosuppressive therapy (IST) or allogeneic hematopoietic stem cell transplantation (HSCT) [3][8][13].
Therapies
Categories: rare hematological diseases, rare transplant-related disorders
Research Papers
275 drug discovery papers about Rare acquired aplastic anemia, with 4 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
275 drug discovery papers about Rare acquired aplastic anemia, with 4 first-in-class emerging drug candidates forecasted to outperform the average preclinical success rate. Recent publications:
2026-08-13 | Real-world retrospective analysis of clinical outcomes in pediatric acquired aplastic anemia: a single-center 10-year cohort study
Introduction Pediatric aplastic anemia (AA), a rare and potentially fatal disease, demonstrates significant heterogeneity in pathogenesis, disease severity, therapeutic regimens, and clinical outcomes. Methods In this study, clinical features and outcomes of 70 children with AA, including severe AA (SAA, n = 30), very severe AA (vSAA, n = 21) and nonsevere AA (nSAA, n = 19), were retrospectively analyzed, with a median follow-up of 60.7 months (range, 0.4-136.5 months). Results Patients with nSAA were mainly treated with cyclosporine A, whereas SAA/vSAA patients primarily received allogeneic hematopoietic stem cell transplantation (HSCT) followed by standard immunosuppressive therapy (IST). Ultimate therapy regimens differed significantly between patients with SAA/vSAA and nSAA ( p = 0.001). SAA/vSAA group exhibited a higher overall response rate at the 2-year follow-up (85.5% vs. 55.6%, p = 0.019). The 2-year overall survival (OS) and event-free survival (EFS) for the entire cohort were 97.1% and 48.5%, respectively. In patients with SAA/vSAA, HSCT was associated with higher and faster cumulative complete response (CR) rate ( p < 0.0001) and superior EFS ( p = 0.0297) compared with IST. Two IST-resistant patients were observed to achieved CR with eltrombopag (EPAG) salvage therapy. Discussion pediatric AA carries excellent OS but suboptimal EFS. HSCT tends to yield more favorable EFS compared with IST in SAA/vSAA patients, and EPAG may act as an effective salvage option for appropriately selected IST-resistant individuals. Further multicenter prospective research is warranted prior to implementing these findings in routine clinical practice.
2026-04-01 | American Society of Hematology 2026 Guidelines for the Diagnosis and Management of Severe Acquired Aplastic Anemia.
Aplastic anemia is a rare, life-threatening condition marked by pancytopenia and bone marrow hypocellularity. Despite therapeutic advances, clinical practice remains variable, and uncertainties persist regarding diagnosis and optimal management. To address these gaps, the American Society of Hematology (ASH) developed evidence-based guidelines to provide standardized, patient-centered recommendations. The recommendations are intended to support patients, clinicians and other health care professionals in their decisions about the management and diagnosis of severe and very severe immune acquired aplastic anemia. ASH formed a multidisciplinary guideline panel of content experts, methodologists and a patient representative. An evidence synthesis team supported the guideline development process by conducting systematic evidence reviews. The panel prioritized clinical questions and used the GRADE approach, including the Evidence-to-Decision frameworks, to assess evidence and make recommendations, which were subject to public comment. The panel agreed on 33 recommendations and 4 good practice statements addressing the use of diagnostic tests, treatment strategies and supportive care. Additional recommendations covered the incorporation of eltrombopag into immunosuppressive regimens and the use of antimicrobial prophylaxis in high-risk patients. For most clinical questions, the certainty of the evidence was rated as low or very low, largely due to the reliance on small, non-randomized studies. Recommendations emphasize prioritizing hematopoietic cell transplantation for younger individuals with an available matched sibling or unrelated donor and as a second-line option following failure of immunosuppressive therapy. The panel also recommended adding eltrombopag to immunosuppressive regimens and using antibiotic and antifungal prophylaxis in neutropenic patients.
2026-03-25 | Epidemiology of Acquired Bone Marrow Failure
Abstract Acquired Aplastic Anemia (AA) is a rare immune-mediated disorder characterized by peripheral blood cytopenias resulting from a hypocellular marrow. Significant advances have been made to characterize the dysregulated immune system and responses to understand the pathogenesis of AA, which in turn have unraveled the genetic predisposition markers (host) and the causal role of environmental factors, and more importantly, the interplay between them in a proportion of these cases. National registries and retrospective studies have identified a marked variation in disease incidence among certain ethnic populations and geographical regions where polymorphism for various Human leukocyte antigen (HLA) alleles has subsequently been found. Idiosyncratic reaction of the bone marrow to certain drugs and toxins has led to better pharmacovigilance practices, better monitoring, and the judicious use of these agents in clinical practice. AA following viral infections, including post-hepatitis AA, other autoimmune disorders, pregnancy, and following vaccination, all highlight a disturbed immune milieu in the body toward disease predisposition. Autoimmunity remains at the core of acquired AA, but we highlight important epidemiological influences that give context and a better understanding of the disordered nature of this autoimmune disease.
2026-03-13 | Successful Treatment of Aplastic Anemia With Eltrombopag During Pregnancy: A Short Report.
Aplastic anemia (AA) is a rare bone marrow failure syndrome with pancytopenia, mainly due to immune-mediated stem cell destruction. First-line therapy for acquired severe AA ≥ 50 years/non-severe AA (NSAA) requiring treatment is immunosuppressive therapy with horse anti-thymocyte globulin, cyclosporine A (CSA), and eltrombopag (EPAG). In pregnancy, cytopenia may worsen, while therapeutic options are limited. We report the first case of a pregnant patient with NSAA/PNH receiving full-dose EPAG (150 mg/d). Counts remained stable, delivery was uneventful, and the child was healthy. Postpartum, EPAG was discontinued, CSA tapered, and transfusion independence achieved. EPAG may represent a feasible option in selected pregnancies.
2026-02-20 | Assessment of characteristics and treatment patterns of adult patients with acquired aplastic anemia in Turkiye (PLANE-TR).
Acquired aplastic anemia (AA) is a rare blood disorder causing hypocellular bone marrow due to immune damage to hematopoietic stem cells, leading to low blood cell counts. This study investigates the demographics, treatment patterns, and clinical outcomes of AA in Turkiye. In this non-interventional, retrospective descriptive study, data of 274 patients (Female/Male: 4/5) diagnosed with AA between September 1, 2011, and September 1, 2021, were collected from 16 centers. Severe and very severe AA was diagnosed in 72% and 27.7% of patients, respectively. The mean time from diagnosis to first treatment was 119 ± 287 days, while time to hematopoietic stem cell transplantation (HSCT) was 212 ± 321 days, and to Anti-Thymocyte Globulin (ATG) was 87 ± 242.5 days. The mean time to response after first-line and second-line treatment was 172.9 ± 264.6 days and 191.9 ± 211.9 days, respectively. The mean overall survival of patients with AA was 3.56 ± 3.12 years, with a 5-year overall survival rate of 72.6%. HSCT and other initial treatments led to full or partial remission for most patients, improving survival rates for over half of them. The study observed comparable patterns to previous studies, providing vital insights into Turkiye's acquired AA treatment landscape.
2026-08-13 | Real-world retrospective analysis of clinical outcomes in pediatric acquired aplastic anemia: a single-center 10-year cohort study
Introduction Pediatric aplastic anemia (AA), a rare and potentially fatal disease, demonstrates significant heterogeneity in pathogenesis, disease severity, therapeutic regimens, and clinical outcomes. Methods In this study, clinical features and outcomes of 70 children with AA, including severe AA (SAA, n = 30), very severe AA (vSAA, n = 21) and nonsevere AA (nSAA, n = 19), were retrospectively analyzed, with a median follow-up of 60.7 months (range, 0.4-136.5 months). Results Patients with nSAA were mainly treated with cyclosporine A, whereas SAA/vSAA patients primarily received allogeneic hematopoietic stem cell transplantation (HSCT) followed by standard immunosuppressive therapy (IST). Ultimate therapy regimens differed significantly between patients with SAA/vSAA and nSAA ( p = 0.001). SAA/vSAA group exhibited a higher overall response rate at the 2-year follow-up (85.5% vs. 55.6%, p = 0.019). The 2-year overall survival (OS) and event-free survival (EFS) for the entire cohort were 97.1% and 48.5%, respectively. In patients with SAA/vSAA, HSCT was associated with higher and faster cumulative complete response (CR) rate ( p < 0.0001) and superior EFS ( p = 0.0297) compared with IST. Two IST-resistant patients were observed to achieved CR with eltrombopag (EPAG) salvage therapy. Discussion pediatric AA carries excellent OS but suboptimal EFS. HSCT tends to yield more favorable EFS compared with IST in SAA/vSAA patients, and EPAG may act as an effective salvage option for appropriately selected IST-resistant individuals. Further multicenter prospective research is warranted prior to implementing these findings in routine clinical practice.
2026-04-01 | American Society of Hematology 2026 Guidelines for the Diagnosis and Management of Severe Acquired Aplastic Anemia.
Aplastic anemia is a rare, life-threatening condition marked by pancytopenia and bone marrow hypocellularity. Despite therapeutic advances, clinical practice remains variable, and uncertainties persist regarding diagnosis and optimal management. To address these gaps, the American Society of Hematology (ASH) developed evidence-based guidelines to provide standardized, patient-centered recommendations. The recommendations are intended to support patients, clinicians and other health care professionals in their decisions about the management and diagnosis of severe and very severe immune acquired aplastic anemia. ASH formed a multidisciplinary guideline panel of content experts, methodologists and a patient representative. An evidence synthesis team supported the guideline development process by conducting systematic evidence reviews. The panel prioritized clinical questions and used the GRADE approach, including the Evidence-to-Decision frameworks, to assess evidence and make recommendations, which were subject to public comment. The panel agreed on 33 recommendations and 4 good practice statements addressing the use of diagnostic tests, treatment strategies and supportive care. Additional recommendations covered the incorporation of eltrombopag into immunosuppressive regimens and the use of antimicrobial prophylaxis in high-risk patients. For most clinical questions, the certainty of the evidence was rated as low or very low, largely due to the reliance on small, non-randomized studies. Recommendations emphasize prioritizing hematopoietic cell transplantation for younger individuals with an available matched sibling or unrelated donor and as a second-line option following failure of immunosuppressive therapy. The panel also recommended adding eltrombopag to immunosuppressive regimens and using antibiotic and antifungal prophylaxis in neutropenic patients.
2026-03-25 | Epidemiology of Acquired Bone Marrow Failure
Abstract Acquired Aplastic Anemia (AA) is a rare immune-mediated disorder characterized by peripheral blood cytopenias resulting from a hypocellular marrow. Significant advances have been made to characterize the dysregulated immune system and responses to understand the pathogenesis of AA, which in turn have unraveled the genetic predisposition markers (host) and the causal role of environmental factors, and more importantly, the interplay between them in a proportion of these cases. National registries and retrospective studies have identified a marked variation in disease incidence among certain ethnic populations and geographical regions where polymorphism for various Human leukocyte antigen (HLA) alleles has subsequently been found. Idiosyncratic reaction of the bone marrow to certain drugs and toxins has led to better pharmacovigilance practices, better monitoring, and the judicious use of these agents in clinical practice. AA following viral infections, including post-hepatitis AA, other autoimmune disorders, pregnancy, and following vaccination, all highlight a disturbed immune milieu in the body toward disease predisposition. Autoimmunity remains at the core of acquired AA, but we highlight important epidemiological influences that give context and a better understanding of the disordered nature of this autoimmune disease.
2026-03-13 | Successful Treatment of Aplastic Anemia With Eltrombopag During Pregnancy: A Short Report.
Aplastic anemia (AA) is a rare bone marrow failure syndrome with pancytopenia, mainly due to immune-mediated stem cell destruction. First-line therapy for acquired severe AA ≥ 50 years/non-severe AA (NSAA) requiring treatment is immunosuppressive therapy with horse anti-thymocyte globulin, cyclosporine A (CSA), and eltrombopag (EPAG). In pregnancy, cytopenia may worsen, while therapeutic options are limited. We report the first case of a pregnant patient with NSAA/PNH receiving full-dose EPAG (150 mg/d). Counts remained stable, delivery was uneventful, and the child was healthy. Postpartum, EPAG was discontinued, CSA tapered, and transfusion independence achieved. EPAG may represent a feasible option in selected pregnancies.
2026-02-20 | Assessment of characteristics and treatment patterns of adult patients with acquired aplastic anemia in Turkiye (PLANE-TR).
Acquired aplastic anemia (AA) is a rare blood disorder causing hypocellular bone marrow due to immune damage to hematopoietic stem cells, leading to low blood cell counts. This study investigates the demographics, treatment patterns, and clinical outcomes of AA in Turkiye. In this non-interventional, retrospective descriptive study, data of 274 patients (Female/Male: 4/5) diagnosed with AA between September 1, 2011, and September 1, 2021, were collected from 16 centers. Severe and very severe AA was diagnosed in 72% and 27.7% of patients, respectively. The mean time from diagnosis to first treatment was 119 ± 287 days, while time to hematopoietic stem cell transplantation (HSCT) was 212 ± 321 days, and to Anti-Thymocyte Globulin (ATG) was 87 ± 242.5 days. The mean time to response after first-line and second-line treatment was 172.9 ± 264.6 days and 191.9 ± 211.9 days, respectively. The mean overall survival of patients with AA was 3.56 ± 3.12 years, with a 5-year overall survival rate of 72.6%. HSCT and other initial treatments led to full or partial remission for most patients, improving survival rates for over half of them. The study observed comparable patterns to previous studies, providing vital insights into Turkiye's acquired AA treatment landscape.
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Drug Discovery Landscape
1 orphan drug designation for Rare acquired aplastic anemia.
1 orphan drug designation for Rare acquired aplastic anemia.
Drug | Therapy type | Regulator | Orphan designation | Approval | Sponsor |
|---|---|---|---|---|---|
Romiplostim | proteins | FDA | 2019-11-27 | — | Amgen Inc. |
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