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
274 drug discovery papers related to Rare acquired aplastic anemia, with 4 first-in-class and 0 next-in-class early-stage therapies forecasted to outperform the average preclinical success rate. Recent publications:
274 drug discovery papers related to Rare acquired aplastic anemia, with 4 first-in-class and 0 next-in-class early-stage therapies forecasted to outperform the average preclinical success rate. Recent publications:
2026-06-10 | Anemia aplástica: diagnóstico, fisiopatologia imune e abordagens terapêuticas.
Introduction: Aplastic anemia is a rare, but potentially fatal, bone marrow failure syndrome characterized by hypocellular marrow and peripheral pancytopenia. The acquired variant is primarily immune-mediated, involving cytotoxic T lymphocytes, inflammatory cytokines, and functional destruction of hematopoietic stem cells. Objective: To systematically analyze the epidemiological, pathophysiological, diagnostic, prognostic, and mechanical factors related to aplastic anemia, with reference to immune pathophysiology, hematopoietic stem cell transplantation, immunosuppression, eltrombopag, relapse, clonal evolution, and emerging therapy. Methods: Searches were conducted throughout PubMed/MEDLINE, SciELO, ScienceDirect, and Portal CAPES from 2014 to 2024, using DeCS/MeSH descriptors in combination with Boolean operators. Workflow: Use of PICOS criteria, independent screening by two reviewers, assessment of risk of bias based on study design, and appropriate descriptive statistical synthesis. Results: 142 records were identified. After removing duplicates, title/abstract screening, full-text evaluation, and application of eligibility criteria, 37 studies were included in the qualitative synthesis. The findings reinforce that diagnosis needs to be based on a combined approach including blood count and reticulocytes, bone marrow aspirate and biopsy, and exclusion of secondary causes based on disease severity; the choice of TNF treatment is determined by age, severity, donor availability, comorbidities, and risk of complications. Conclusion: Modern management of aplastic anemia should be individualized and based on early diagnosis, risk stratification (including the use of prognostic models), transfusion support, anti-infective prophylaxis (and treatment when indicated), transplantation as appropriate, and immunosuppression with the incorporation of thrombopoietin receptor agonists.
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.
2026-06-10 | Anemia aplástica: diagnóstico, fisiopatologia imune e abordagens terapêuticas.
Introduction: Aplastic anemia is a rare, but potentially fatal, bone marrow failure syndrome characterized by hypocellular marrow and peripheral pancytopenia. The acquired variant is primarily immune-mediated, involving cytotoxic T lymphocytes, inflammatory cytokines, and functional destruction of hematopoietic stem cells. Objective: To systematically analyze the epidemiological, pathophysiological, diagnostic, prognostic, and mechanical factors related to aplastic anemia, with reference to immune pathophysiology, hematopoietic stem cell transplantation, immunosuppression, eltrombopag, relapse, clonal evolution, and emerging therapy. Methods: Searches were conducted throughout PubMed/MEDLINE, SciELO, ScienceDirect, and Portal CAPES from 2014 to 2024, using DeCS/MeSH descriptors in combination with Boolean operators. Workflow: Use of PICOS criteria, independent screening by two reviewers, assessment of risk of bias based on study design, and appropriate descriptive statistical synthesis. Results: 142 records were identified. After removing duplicates, title/abstract screening, full-text evaluation, and application of eligibility criteria, 37 studies were included in the qualitative synthesis. The findings reinforce that diagnosis needs to be based on a combined approach including blood count and reticulocytes, bone marrow aspirate and biopsy, and exclusion of secondary causes based on disease severity; the choice of TNF treatment is determined by age, severity, donor availability, comorbidities, and risk of complications. Conclusion: Modern management of aplastic anemia should be individualized and based on early diagnosis, risk stratification (including the use of prognostic models), transfusion support, anti-infective prophylaxis (and treatment when indicated), transplantation as appropriate, and immunosuppression with the incorporation of thrombopoietin receptor agonists.
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.
Access all drug discovery articles and probability of success in trials forecasts:
Access all drug discovery articles and probability of success in trials forecasts:
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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