Rare bleeding disorders and advances in gene therapy

Rare bleeding disorders usually begin in childhood and manifest as varying degrees of bleeding, which can be life-threatening in severe cases. With the development of gene editing technology, it is expected that hereditary coagulation factor disorders will someday be fundamentally cured by gene therapy. On account of their rarity, comprehension of these diseases is essential for the application of new treatment strategies. We have compiled the features of some newly discovered mutations of prothrombin, factor VII, and factor X in recent years. In addition, this review introduces the advances and obstacles in gene therapy.
Source: Blood Coagulation and Fibrinolysis - Category: Hematology Tags: REVIEW ARTICLE Source Type: research

Related Links:

This study has been followed by unparalleled advances in gene therapy for hemophilia A and B, leading to clotting factor activity approaching normal or near-normal levels associated with a "zero bleed rates" in previously severely affected patients following a single administration of AAV vectors. Thus, AAV gene therapies are likely to alter the treatment paradigm for hemophilia A and B. This review explores recent progress and the remaining limitations that need to be overcome for wider availability of this novel treatment of inherited bleeding disorders. PMID: 31808868 [PubMed - in process]
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
Authors: Rodriguez-Merchan EC Abstract Introduction: The purpose of this article is to review which data about hemophilia are currently provided by the Cochrane database of systematic reviews (CDBSR). Methodological consideration: All statements about hemophilia in the Cochrane Collaboration are based on evidence generated in randomized controlled clinical trials. Areas covered: There is a high degree of evidence that prophylaxis preserves joint function in children with hemophilia compared to on-demand treatment. Also, that recombinant factor VII activated (rFVIIa) and activated prothrombin complex concentrates (A...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
High specificity, easy reversibility, and a half-life on the order of weeks; these are all major advantages that gene therapy has over traditional anticoagulants, add to that a strategy that weakens clots rather than preventing clotting altogether and prophylaxis of thrombosis may become much safer. Currently, anticoagulant drugs are used as a preventative measure for people susceptible to developing disease causing thrombi (which manifest as heart attacks, strokes, and pulmonary embolism), but they require frequent administration and their strict inhibition of clotting increases the risk of uncontrolled bleeding.
Source: Thrombosis Research - Category: Hematology Authors: Source Type: research
Authors: Kizilocak H, Young G Abstract Hemophilia A and B are inherited bleeding disorders characterized by deficiency or dysfunction of coagulation protein factors VIII and IX, respectively. Recurrent joint and muscle bleeds are the major clinical manifestations. Replacement therapy with clotting factors, either at the time of bleeding or as part of a prophylactic regimen, is adapted to individual patient needs. The major complication of therapy is the development of neutralizing antibodies. In response, researchers have developed novel agents to both reduce the treatment burden and prevent bleeding regardless of ...
Source: Clinical Advances in Hematology and Oncology - Category: Cancer & Oncology Tags: Clin Adv Hematol Oncol Source Type: research
Over the past decades hemophilia has been transformed from a debilitating disease to a manageable condition. However, the current treatment options are expensive, complex, and inaccessible to a large portion of the global population. Moreover, the development of antibodies to replacement factors, termed inhibitors, is a common complication that not only renders conventional prophylaxis regimens ineffective but also increase the annual bleeding rate in affected patients. Fortunately, much progress has been made toward developing a curative gene therapy treatment for hemophilia and these efforts have led to a series of human...
Source: Transfusion and Apheresis Science - Category: Hematology Authors: Source Type: research
Abstract The treatment or prevention of bleeding in patients with hemophilia A rely on replacement therapy with different factor VIII containing products or on the use of by-passing agents, i.e., activated prothrombin complex concentrates or recombinant activated factor VII. Emerging approaches include the use of bispecific anti-factor IXa/factor X antibodies, anti-Tissue Factor Pathway Inhibitor antibodies, interfering RNA to antithrombin, APC-specific serpins or gene therapy. The latter strategies however meet with short term clinical experience and potential adverse effects including the absence of tight tempor...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
BioMarin Pharmaceutical Inc said on Tuesday early trial data for its gene therapy for hemophilia A suggested the one-time infusion's effect on some patients' bleeding disorders would last eight years.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news
A potential one-shot-and-you're-done hemophilia A treatment from BioMarin Pharmaceutical Inc. will target regulatory approval in the United States and Europe after showing dramatic decreases in bleeding during clinical trials. But in a competitive market to find the next big and expensive treatment to help — or even cure — hemophilia A patients, questions linger around how long the treatment sticks with patients. BioMarin (NASDAQ: BMRN) apparently didn't allay those concerns Tuesday: The San…
Source: bizjournals.com Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
CD4+ T-Cells With High Common γ Chain Expression and Disturbed Cytokine Production Are Enriched in Children With Type-1 Diabetes Julia Seyfarth1*, Nathalie Mütze1, Jennifer Antony Cruz1, Sebastian Kummer1, Christina Reinauer1, Ertan Mayatepek1, Thomas Meissner1,2 and Marc Jacobsen1 1Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Düsseldorf, Germany 2German Center for Diabetes Research (DZD), Partner Düsseldorf, Düsseldorf, Germany The common gamma chain (γc) contributes to the formation of different c...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Publication date: Available online 10 April 2019Source: The Lancet HaematologyAuthor(s): Francesca Ferrua, Maria Pia Cicalese, Stefania Galimberti, Stefania Giannelli, Francesca Dionisio, Federica Barzaghi, Maddalena Migliavacca, Maria Ester Bernardo, Valeria Calbi, Andrea Angelo Assanelli, Marcella Facchini, Claudia Fossati, Elena Albertazzi, Samantha Scaramuzza, Immacolata Brigida, Serena Scala, Luca Basso-Ricci, Roberta Pajno, Miriam Casiraghi, Daniele CanaruttoSummaryBackgroundWiskott-Aldrich syndrome is a rare, life-threatening, X-linked primary immunodeficiency characterised by microthrombocytopenia, infections, ecze...
Source: The Lancet Haematology - Category: Hematology Source Type: research
More News: Bleeding | Child Development | Gene Therapy | Genetics | Hematology