About this Research Topic
Hemophilia is a rare and life-long bleeding disorder in which the blood does not clot normally. While people with hemophilia can lead fairly normal lives with certain precautions to prevent and control bleeds, managing the condition can be challenging. Those living with hemophilia or caring for someone with hemophilia can face a wide range of medical, psychological, social and financial difficulties which is why a strong network of support is a vital part of comprehensive care.
The modern management of hemophilia probably begun in the early 1970s. It was here that plasma concentrates of coagulation factors were first manufactured and have since become widely available. Later, a breakthrough occurred with the cloning of the FIX and FVIII genes. The widespread use of such bioengineered forms of both FVIII and FIX originally began in the mid-1990s and has now completely revolutionized the clinical management of both hemophilia A and B patients. Nevertheless, notable drawbacks include occasionally insufficient hemostatic protection, the need for repeated prophylactic injections, as well as the variable risk of developing alloantibodies, which are conventionally known as ‘inhibitors’. Substantial advances have also since been achieved with the development of by-passing agents, manufactured primarily for managing bleeding in patients with high-titter inhibitors, as well as with manufacturing of RNA interference compound targeting antithrombin, or clotting factor mimetics based on humanized bispecific antibodies, as is the case of emicizumab.
Gene therapy is conventionally defined as the use of genetic products containing active substances based on recombinant nucleic acid, which can be administered in humans for therapeutic, prophylactic, or diagnostic purposes. The results of recent studies show that a promising road toward routine use of gene therapy in hemophilia A and B patients has not only already begun but is now progressing forward. The prospect of providing a definitive cure for these bleeding disorders, rather than prophylactic or emergent management, is indeed clinically, socially, and economically attractive, due to the huge medical, social, and economic burden that hemophilia imposes.
Accordingly, this Research Topic aims to present a modern approach in the diagnosis, therapy and monitoring of the hemophilia patient. Here we aim to aid healthcare professionals that diagnose, treat, and research hemophilia through state-of-the-art diagnostics and novel, emerging drugs including but not limited to gene therapy. Comprehensive reviews, as well as research (may it be basic, translational or clinical) and even interesting case series or case reports are welcomed, with the goal to present new approaches in the clinical management of the hemophilia patient. Specifically, we would like to address the following themes:
• Current real-life data on haemophilia management
• Modern laboratory assessment of the haemophilia patient
• Novel drugs and monoclonal antibodies for haemophilia therapy
• Gene therapy for haemophilia therapy
• Future drugs and therapeutic alternatives currently in the “pipeline” for haemophilia
Keywords: Haemophilia, Gene Therapy, Patient Management, Therapeutics
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