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Advances in Haemophilic Hip Joint Arthropathy
Published in K. Mohan Iyer, Hip Joint in Adults: Advances and Developments, 2018
Muhammad Zahid Saeed, Amr Saad, Haroon A. Mann, Nicholas Goddard
Haemophilia is a hereditary X-linked recessive condition affecting males [1–3]. The deficiency or absence of coagulation factor VIII causes haemophilia A, and the deficiency or absence of coagulation factor IX causes haemophilia B. Haemophilia can lead to advanced arthropathy. Haemophilic arthropathy is permanent cartilage and bone destruction occurring in patients with haemophilia as a longstanding effect of repeated haemarthrosis. Haemarthrosis can be spontaneous or result from a minor injury. Approximately 50% of haemophilia sufferers will develop a severe arthropathy [1–5].
Comprehensive analysis and prediction of long-term durability of factor IX activity following etranacogene dezaparvovec gene therapy in the treatment of hemophilia B
Published in Current Medical Research and Opinion, 2023
Jinesh Shah, Hongseok Kim, Krupa Sivamurthy, Paul E. Monahan, Michael Fries
Etranacogene dezaparvovec is a gene therapy developed for the treatment of hemophilia B. It comprises a recombinant adeno-associated viral (AAV) vector serotype 5 (rAAV5) capsid containing the coding sequence for the Padua variant of the human coagulation factor IX, which is a highly active variant of factor IX resulting in activity levels 5–8 times higher compared with wild-type factor IX4. Etranacogene dezaparvovec is a derivative of AMT-0604,5. Each of these gene therapy products are the same other than AMT-060 contains the wild-type F9 gene, whereas a change of only two nucleotides in the therapeutic gene expression cassette results in the expression of the Padua F9 transgene from etranacogene dezaparvovec. The resultant wild-type and Padua coagulation factor IX differ by only one amino acid4,5. AMT-060 has been studied in a Phase 1/2 clinical trial in people with severe or moderately severe hemophilia B (factor IX activity levels of ≤2%)5. Etranacogene dezaparvovec has been assessed in the same target participant population in Phase 2b4,6 and Phase 3 clinical trials7. Study participants had a history of a severe bleeding phenotype at this level of factor IX deficiency, shown by the clinical requirement for routine prophylactic infusions of factor IX replacement products.
Recent advances in surgery and its perioperative treatment in people with hemophilia
Published in Expert Review of Hematology, 2021
Curtin et al. analyzed the role of long-acting recombinant coagulation factor IX (FIX) albumin fusion protein (rIX-FP) in surgical procedures] in PWH B [8]. Twenty-one masculine PWH under the age of 65 years with severe hemophilia B (FIX activity ≤2%) needing non-urgent surgery (8 minor and 22 major surgical procedures) were recruited in the surgical substudy of PROLONG-9FP. The dosage was established following the World Federation of Hemophilia recommendations and the pharmacokinetics of each individual patient. A four-point scale was used to evaluate the hemostatic effectiveness. During the perioperative phase, rIX-FP consuming and security were monitored. In the majority of surgical operations (29/30, 96.7%) a single bolus was administered before surgery. Following minor surgical procedures, patients were given 0–3 infusions with an average consuming of 178.89 IU/kg in the 2-week post-surgery phase. In patients who experienced major surgical procedures, the number of infusions in the 2-week post-surgery phase was 5 on average and consuming was 221.7 IU/kg on average. Hemostasis was excellent or good in 7 of 8 (87.5%) of minor operations and in 21 of 22 (95.5%) of major operations. Thus, this study appeared to demonstrate that surgical procedures can be carried out utilizing a single pre-surgery bolus of rIX-FP in the majority of patients. Throughout post-surgery treatment, utilization of rIX-FP required unusual infusions and low FIX consumption. Therefore, rIX-FP seems to facilitate perioperative treatment in PWH B.
Normal activated partial thromboplastin time in Chinese patients with mild hemophilia B
Published in Hematology, 2020
Xiong Wang, Ning Tang, Na Shen, Yaowu Zhu, Yanjun Lu, Linna Gao
Hemophilia B (HB, OMIM: 300746) is one of the most common bleeding disorders with an X- linked recessive inheritance pattern, caused by the deficiency of coagulation factor IX (FIX). The estimated prevalence of HB was 5.7 cases per 100,000 births, affecting one in 30,000 males worldwide [1]. HB can be classified by the clotting activity of FIX (FIX:C) as severe (FIX:C<1%), moderate (FIX:C, 1–5%), and mild (FIX:C, 5–40%) disease. Severe patients experience frequent spontaneous bleeding, while moderate and mild patients experience prolonged bleeding in response to trauma, surgery, or tooth extraction [2]. Diagnosis of HB is based on the bleeding symptoms and coagulation tests, including decreased FIX:C and prolonged activated partial thromboplastin time (APTT). Genetic test has promoted the molecular diagnosis of HB [3].