4,410 results match your criteria Paroxysmal Nocturnal Hemoglobinuria

Iptacopan monotherapy in patients with paroxysmal nocturnal hemoglobinuria: a 2-cohort open-label proof-of-concept study.

Blood Adv 2022 May 13. Epub 2022 May 13.

National University Cancer Institute, Singapore, Singaproe, Singapore.

Iptacopan (LNP023) is a novel, oral selective inhibitor of complement factor B under clinical development for paroxysmal nocturnal hemoglobinuria (PNH). In this ongoing open-label phase 2 study, PNH patients with active hemolysis were randomized to receive single-agent iptacopan twice-daily, at a dose of either 25 mg for 4 weeks followed by 100 mg for up to 2 years (cohort 1) or 50 mg for 4 weeks followed by 200 mg for up to 2 years (cohort 2). At the time of interim analysis, of 13 PNH patients enrolled, all 12 evaluable for efficacy achieved the primary endpoint of reduction in serum lactate dehydrogenase (LDH) levels by at least 60% by week 12 as compared to baseline; mean LDH levels dropped rapidly and durably, namely by 77% and 85% at week 2 and by 86% and 86% at week 12 in cohorts 1 and 2, respectively. Read More

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Seroconversion to mRNA SARS-CoV-2 vaccines in patients with autoimmune cytopenias and bone marrow failures.

Sci Rep 2022 May 11;12(1):7743. Epub 2022 May 11.

Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, via Francesco Sforza 35, 20100, Milan, Italy.

Data concerning the efficacy of SARS-CoV-2 vaccines in patients with non-oncological hematologic conditions are lacking. These include autoimmune cytopenias (autoimmune hemolytic anemia AIHA, immune thrombocytopenia ITP, and autoimmune neutropenia), and bone marrow failure syndromes (aplastic anemia, low risk myelodysplastic syndromes, and paroxysmal nocturnal hemoglobinuria). These conditions may relapse/reactivate after COVID-19 infection and vaccine. Read More

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Real-World Eculizumab Dosing Patterns Among Patients with Paroxysmal Nocturnal Hemoglobinuria in a US Population.

Clinicoecon Outcomes Res 2022 3;14:357-369. Epub 2022 May 3.

Analysis Group, Inc., Boston, MA, USA.

Purpose: Current pharmacologic management of paroxysmal nocturnal hemoglobinuria (PNH) consists of C5 inhibitors, eculizumab and ravulizumab; however, because patients experience incomplete symptom control, off-label doses may be utilized. We conducted a retrospective, longitudinal cohort study of provider-based claims data to assess the real-world eculizumab dosing patterns in PNH patients.

Patients And Methods: Patients were ≥12 years, received ≥2 eculizumab infusions between January 1, 2015 and September 30, 2019, and had ≥3 months of continuous clinical activity prior to index. Read More

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Evaluating ravulizumab for the treatment of children and adolescents with paroxysmal nocturnal hemoglobinuria.

Expert Rev Hematol 2022 May 13:1-8. Epub 2022 May 13.

Department of Pediatrics, Emory University School of Medicine, Atlanta, Georgia, USA.

Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired clonal stem cell disease harvesting a somatic mutation in the phosphatidylinositol glycan class A () gene. This mutation results in a deficiency in cell membrane complement regulators leading to activation of the terminal complement pathway, clinically presenting as hemolytic anemia and thrombosis, and frequently associated with bone marrow failure. This condition was historically managed with supportive care and bone marrow transplant. Read More

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Long-term safety and efficacy of ravulizumab in patients with paroxysmal nocturnal hemoglobinuria: 2-year results from two pivotal phase 3 studies.

Eur J Haematol 2022 May 3. Epub 2022 May 3.

Hôpital Saint-Louis, AP-HP, Paris, France.

Objectives: The complement component 5 (C5) inhibitor ravulizumab demonstrated non-inferiority to eculizumab following 26 weeks of treatment in complement inhibitor-naïve and complement inhibitor-experienced patients with paroxysmal nocturnal hemoglobinuria (PNH; studies 301 and 302, respectively). This study aims to describe the results of both studies from 27 weeks to 2 years.

Methods: Patients (N = 441) continued to receive ravulizumab throughout the extension period. Read More

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A Case of Childhood Severe Paroxysmal Cold Hemoglobinuria with Acute Renal Failure Successfully Treated with Plasma Exchange and Eculizumab.

Case Rep Pediatr 2022 22;2022:3267189. Epub 2022 Apr 22.

Carilion Children's Pediatric Hematology/Oncology, Carilion Clinic, Roanoke, VA, USA.

We describe the case of a 4-year-old female who presented with sepsis and disseminated intravascular coagulation (DIC), developed ongoing intravascular hemolysis with acute renal failure from suspected pigment-induced acute tubular necrosis necessitating continuous renal replacement therapy (CRRT) for five days followed by four episodes of intermittent hemodialysis (iHD), and was subsequently diagnosed with paroxysmal cold hemoglobinuria (PCH). She was successfully treated with plasma exchange and eculizumab, a humanized monoclonal antibody targeting complement protein C5, and demonstrated significant improvement of hemolysis and recovery of renal function. Read More

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Circulating Endothelial Progenitor Cells and Their Relation to Thrombosis in Paroxysmal Nocturnal Hemoglobinuria and Aplastic Anemia.

Indian J Hematol Blood Transfus 2022 Apr 26;38(2):319-326. Epub 2021 May 26.

Department of Internal Medicine, Division of Hematology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

Thrombosis is a leading cause of morbidity and mortality in paroxysmal nocturnal hemoglobinuria (PNH). Multiple factors are responsible for the thrombotic tendency in these patients. Endothelial progenitorcells (EPCs) originate from primitive hematopoietic stem cells. Read More

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[Perioperative management of laparoscopic cholecystectomy in a patient with paroxysmal nocturnal haemoglobinuria undergoing ravulizumab treatment].

Rinsho Ketsueki 2022 ;63(4):260-264

Department of Hematology, Tokyo Medical and Dental University.

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by hemolysis, thrombosis, and bone marrow failure. Infection, pregnancy, and surgical operation have the potential to evoke severe episodes of hemolysis and thrombosis. Therefore, the use of an antibody agent against complement component 5 (C5), eculizumab, one day before the operation is recommended. Read More

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Aplastic anemia: Quo vadis?

Semin Hematol 2022 Jan 31;59(1):54-55. Epub 2021 Dec 31.

Translational Hematology and Oncology Research Department, Taussig Cancer Center, Cleveland Clinic, Cleveland, OH; Leukemia Program, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH. Electronic address:

In the last 30 years, the field of aplastic anemia (AA), and more generally bone marrow failure syndromes, has undergone a multitude of new discoveries. The application of modern and sophisticated sequencing techniques unveiled a variety of genes associated with these disorders and contributed to a better understanding of the disease pathobiology. This advancement was paralleled by the discovery, clinical testing and subsequent approval of new drugs for the treatment of AA and associated disorders. Read More

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January 2022

Clonal dynamics of hematopoietic stem cell compartment in aplastic anemia.

Semin Hematol 2022 Jan 5;59(1):47-53. Epub 2022 Jan 5.

Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH; Leukemia Program, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH. Electronic address:

Advances in molecular technologies accelerated investigations of the hematopoietic stem cell (HSC) compartment in aplastic anemia (AA). Initially, stem cell biology approaches indicated a profound depletion of HSC pool, while studies of paroxysmal nocturnal hemoglobinuria (PNH), X-chromosome inactivation and cytogenetics provided the first evidence for the presence of clonality in the context of a contracted HSC compartment. More recently, the introduction of deep NGS allowed a more precise assessment of clonal expansions in AA. Read More

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January 2022

Hemolytic paroxysmal nocturnal hemoglobinuria: 20 years of medical progress.

Semin Hematol 2022 Jan 11;59(1):38-46. Epub 2022 Jan 11.

Severe Aplastic Anemia Working Party (SAAWP) of the European Group for Bone Marrow Transplantation (EBMT), Leiden, Neitherlands; AORN San Giuseppe Moscati Avellino, Italy; Federico II University, Naples.

Paroxysmal nocturnal hemoglobinuria (PNH) is characterized by intravascular hemolysis, thrombosis and bone marrow failure. Prior to the availability of specific therapy, PNH led to the death of around half of affected individuals, mainly through thrombotic complications, with a particular grim prognosis for patients presenting with classic PNH. The anti-C5 monoclonal antibody eculizumab has revolutionized treatment, controlling intravascular hemolysis and thrombosis occurrence, with improved long-term survival. Read More

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January 2022

Absolute Neutrophil Count in Cases of Pancytopenia.

J Assoc Physicians India 2022 Apr;70(4):11-12

Army Hospital Research & Referral, New Delhi.

Pancytopenia is a common cause of hematological consultation. Common underlying causes include vitamin deficiency (vitamin B12, folic acid), drugs (hydroxyurea, phenytoin, methotrexate), and bone marrow failure syndrome. Aplastic anemia is one of the rarest hematological diseases and presents as pancytopenia. Read More

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Novel targeted C3 inhibitor pegcetacoplan for paroxysmal nocturnal hemoglobinuria.

Bo Xu

Clin Exp Med 2022 Apr 19. Epub 2022 Apr 19.

College of Pharmacy, University of South China, No. 28, Changsheng West Road, Zhengxiang District, Hengyang, 421001, Hunan, China.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, life-threatening acquired blood disease characterized by chronic complement-mediated hemolysis and thrombosis. On May 14, 2021, the US FDA approved a new targeted C3 therapy Empaveli (pegcetacoplan), once called APL-2, for use in adult PNH. This review aims to review the pharmacological properties, clinical safety and efficacy of pegcetacoplan, and provides comprehensive drug information about pegcetacoplan. Read More

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CD157 Can Replace CD24 and CD14 in a Single-Tube Flow-Cytometric Assay to Detect Paroxysmal Nocturnal Hemoglobinuria (PNH) Clones on Both Neutrophils and Monocytes: A Prospective Study From North India.

Cureus 2022 Apr 8;14(4):e23965. Epub 2022 Apr 8.

Laboratory Medicine/Pathology, Medanta - The Medicity, Gurugram, IND.

Introduction As per current guidelines, detection of paroxysmal nocturnal hematuria (PNH) clones on leucocytes requires the demonstration of the loss of at least two glycosyl-phosphatidyl-inositol (GPI)-linked molecules on both neutrophils and monocytes by flow cytometry. CD24 and CD14 are GPI-linked molecules expressed on neutrophils and monocytes respectively, whereas another GPI-linked molecule, CD157, is expressed on both neutrophils and monocytes. This prospective study evaluated the ability of CD157 to replace both CD24 and CD14 in a single-tube flow-cytometric assay to detect PNH clones on both neutrophils and monocytes. Read More

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Effect of Eculizumab Treatment in Patients with Paroxysmal Nocturnal Hemoglobinuria with or without High Disease Activity: Real-World Findings from the International Paroxysmal Nocturnal Hemoglobinuria Registry.

Eur J Haematol 2022 Apr 7. Epub 2022 Apr 7.

Institute of Transfusion Medicine, University of Ulm, and Institute for Clinical Transfusion Medicine and Immunogenetics, German Red Cross Blood Transfusion Service Baden-Württemberg-Hessen and University Hospital Ulm, Ulm, Germany.

Background: The effects of eculizumab treatment in PNH patients with or without high disease activity (HDA), defined by LDH ≥1.5xULN and history of major adverse vascular events (MAVEs; including thrombotic events [TEs]); anemia; and/or physician-reported abdominal pain, dyspnea, dysphagia, erectile dysfunction, fatigue, and/or hemoglobinuria, in the International PNH Registry were evaluated.

Methods: Registry patients were stratified by baseline HDA and eculizumab-treatment status. Read More

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Paroxysmal nocturnal hemoglobinuria clone in a patient with acute promyelocytic leukemia.

J Cancer Res Ther 2022 Jan-Mar;18(1):294-296

Hematology Oncology, Saint Joseph's University Medical Center, Paterson, New Jersey, USA.

Acute promyelocytic leukemia (APL) is a unique subtype of acute myeloid leukemia (AML), which presents with a distinct coagulopathy. Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired hemolytic anemia which is clonal in nature due to somatic mutation. PNH may evolve to aplastic anemia, and more rarely, to a myelodysplastic syndrome or to AML. Read More

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A Case of Aplastic Anemia and Colon Cancer With Underlying Spliceosome Mutation: Is It an Incidental Finding or a Novel Association?

Cureus 2022 Feb 26;14(2):e22632. Epub 2022 Feb 26.

Internal Medicine, Louisiana State University (LSU) Health, Shreveport, USA.

Alternative splicing is an epigenetic mechanism that plays a role in the development and function of antigen-specific lymphocytes. One such is the zinc-finger-RNA-binding-motif-and-serine/arginine-rich-2 (ZRSR2), which is clinically implicated in myelodysplastic syndrome and leukemia. Here, we present a case of a young male with myriad autoimmune conditions and adenocarcinoma of the colon in the setting of ZRSR2 mutation. Read More

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February 2022

Significance of paroxysmal nocturnal hemoglobinuria clone in immunosuppressive therapy for children with severe aplastic anemia.

Zhongguo Dang Dai Er Ke Za Zhi 2022 Mar;24(3):303-308

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.

Objectives: To study the association between paroxysmal nocturnal hemoglobinuria (PNH) clone and immunosuppressive therapy (IST) in children with severe aplastic anemia (SAA).

Methods: A retrospective analysis was performed on the medical data of 151 children with SAA who were admitted and received IST from January 2012 to May 2020. According to the status of PNH clone, these children were divided into a negative PNH clone group (=135) and a positive PNH clone group (=16). Read More

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Pegcetacoplan for Paroxysmal Nocturnal Hemoglobinuria.

Blood 2022 Mar 29. Epub 2022 Mar 29.

Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.

Approximately a third of patients with paroxysmal nocturnal hemoglobinuria (PNH) remain transfusion dependent or have symptomatic anemia despite treatment with a C5 inhibitor. Pegcetacoplan inhibits complement proximally at the level of C3 and is highly effective in treating persistent anemia resulting from C3-mediated extravascular hemolysis. We describe the rationale for C3 inhibition in the treatment of PNH and discuss preclinical and clinical studies using pegcetacoplan and other compstatin derivatives. Read More

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"All renal manifestations of paroxysmal nocturnal hemoglobinuria in one patient".

Int Urol Nephrol 2022 Mar 29. Epub 2022 Mar 29.

Department of Pathology, School of Medicine, Karadeniz Technical University, Trabzon, Turkey.

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[The efficacy of eltrombopag plus cyclosporine A in patients with transfusion-dependent non-severe aplastic anemia: a retrospective study from single center].

Zhonghua Nei Ke Za Zhi 2022 Apr;61(4):409-411

Department of Hematology, First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.

The main purpose of our study was to evaluate the efficacy and safety of eltrombopag plus cyclosporine A (CsA) in transfusion-dependent non-severe aplastic anemia(TD-NSAA). The clinical characteristics of 13 TD-NSAA patients who received initial treatment of eltrombopag plus CsA from 2019 to 2021 were retrospectively analyzed. The 3-month overall hematological response (OR) rate was 12/13. Read More

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[Exclusive diagnosis of aplastic anemia].

H Q Wang Z H Shao

Zhonghua Yi Xue Za Zhi 2022 Mar;102(12):830-832

Department of Hematology, Tianjin Medical University General Hospital, Tianjin 300052, China.

As an independent disease, aplastic anemia (AA) has been recognized for more than a century. When AA is diagnosed, other non-AA bone marrow failures should be excluded. It is termed as exclusive diagnosis of AA. Read More

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MRI as a Aiagnostic Tool for Paroxysmal Nocturnal Hemoglobinuria: A Case Report.

Sisli Etfal Hastan Tip Bul 2021 29;55(4):565-568. Epub 2021 Dec 29.

Department of Radiology, University of Health Sciences Turkey, Sisli Hamidiye Etfal Training and Research Hospital, İstanbul, Turkey.

Paroxysmal nocturnal hemoglobinuria (PNH) is a type of hematopoietic stem cell disease and the clinical manifestation of the disease is mainly a combination of anemia and thrombosis. Intravascular hemolysis in PNH leads to hemosiderosis in renal cortex as a rare pattern of hemochromatosis. With this case presentation, we aim to show the radiological findings of this disease. Read More

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December 2021

Literature Review of Fatigue Scales and Association with Clinically Meaningful Improvements in Outcomes Among Patients With and Without Paroxysmal Nocturnal Hemoglobinuria.

Adv Ther 2022 May 22;39(5):1959-1975. Epub 2022 Mar 22.

Department of General Internal Medicine, Division of Internal Medicine, The University of Texas MD Anderson Cancer Center, 1400 Pressler Street, Unit 1465, Houston, TX, 77030-4004, USA.

Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare blood disorder characterized by anemia and debilitating fatigue. Limited evidence characterizes the association between hemoglobin, an indicator of anemia and disease activity, and patient-reported fatigue scales. This review identifies benchmarks for clinically meaningful improvements in patients with and without PNH. Read More

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Autoimmune Hemolytic Anemia in Children: Laboratory Investigation, Disease Associations, and Treatment Strategies.

J Pediatr Hematol Oncol 2022 Apr;44(3):71-78

Department of Pediatrics, St. Louis University School of Medicine, St. Louis, MO.

Autoimmune hemolytic anemia is a relatively uncommon pediatric clinical condition. As such, the evaluation and management of these cases can be challenging for even the most seasoned pediatrician. In this review, the 3 major forms of autoimmune hemolytic anemia in children will be discussed: warm autoimmune hemolytic anemia, cold agglutinin disease, and paroxysmal cold hemoglobinuria. Read More

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The spectrum of paroxysmal nocturnal hemoglobinuria clinical presentation in a Brazilian single referral center.

Ann Hematol 2022 May 18;101(5):999-1007. Epub 2022 Feb 18.

Department of Medical Imaging, Hematology, and Clinical Oncology, Ribeirão Preto School of Medicine, University of São Paulo, Av. Bandeirantes, 3900, Sala 743, 7º andar - HCRP, Ribeirão Preto, SP, 14049-900, Brazil.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematological disorder caused by the expansion of a hematopoietic clone harboring a somatic genetic variant in the PIG-A gene translating into a wide spectrum of clinical and laboratory changes, from intravascular hemolysis, thrombosis, and bone marrow failure to subclinical presentation. In this study, we retrospectively analyzed 87 consecutive cases (39 women; median follow-up, 18 months; range, 0-151 months) in whom a PNH clone was detected by flow cytometry between 2006 and 2019 seen at a single Brazilian referral center. The median age at diagnosis was 29 years (range, 8 to 83 years); 29 patients (33%) were initially classified as PNH/bone marrow failure, 13 (15%) as classic PNH, and 45 (52%) as subclinical PNH. Read More

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