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https://www.readbyqxmd.com/read/29731369/tailored-frequency-escalated-primary-prophylaxis-for-severe-haemophilia-a-results-of-the-16-year-canadian-hemophilia-prophylaxis-study-longitudinal-cohort
#1
Brian M Feldman, Georges E Rivard, Paul Babyn, John K M Wu, MacGregor Steele, Man-Chiu Poon, Robert T Card, Sara J Israels, Nicole Laferriere, Kulwant Gill, Anthony K Chan, Manuel Carcao, Robert J Klaassen, Stephanie Cloutier, Victoria E Price, Saunya Dover, Victor S Blanchette
BACKGROUND: Severe haemophilia A has high morbidity, and treatment, while effective, is very expensive. We report the 16-year follow-up of the Canadian Hemophilia Prophylaxis Study, which examined the effectiveness of tailored frequency-escalated primary prophylaxis with a focus on health outcomes within the domains of body structures and functions, and activities and participation (according to the WHO International Classification of Functioning, Disability and Health [WHO-ICF] framework) and a view to reducing consumption of costly clotting factor, which accounts for more than 90% of the cost of care of severe haemophilia...
May 3, 2018: Lancet Haematology
https://www.readbyqxmd.com/read/29724628/the-rare-coexistence-of-high-titer-inhibitor-development-and-gastrointestinal-stromal-tumor-in-a-patient-with-severe-hemophilia-a-case-report
#2
Abdulkerim Yıldız, Osman Şahin, Okan Yayar, Çiğdem Pala Öztürk, Hacer Berna Afacan Öztürk, Senem Maral, Harika Okutan, Murat Albayrak
Hemophilia is a hereditary disease with impaired blood coagulation due to a genetic deficiency of blood coagulation factors. The development of inhibitors further complicates the course of the disease and management. The case is here reported of a haemophilia patient who presented with coexisting development of high titer inhibitor with Gastrointestinal Stromal Tumor (GIST) diagnosis and was admitted with upper gastrointestinal system bleeding. The patient had no prior history of inhibitor presence. During all procedures including surgery, excellent hemostasis was achieved with rFVIIa treatment and no hemorrhagic complication was observed...
April 26, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29720192/the-impact-of-severe-haemophilia-and-the-presence-of-target-joints-on-health-related-quality-of-life
#3
Jamie O'Hara, Shaun Walsh, Charlotte Camp, Giuseppe Mazza, Liz Carroll, Christina Hoxer, Lars Wilkinson
BACKGROUND: Joint damage remains a major complication associated with haemophilia and is widely accepted as one of the most debilitating symptoms for persons with severe haemophilia. The aim of this study is to describe how complications of haemophilia such as target joints influence health-related quality of life (HRQOL). METHODS: Data on hemophilia patients without inhibitors were drawn from the 'Cost of Haemophilia across Europe - a Socioeconomic Survey' (CHESS) study, a cost-of-illness assessment in severe haemophilia A and B across five European countries (France, Germany, Italy, Spain, and the UK)...
May 2, 2018: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/29628601/i-gel%C3%A2-may-be-the-device-of-choice-for-controlled-ventilation-in-patients-with-hemophilia-undergoing-abdominal-laparoscopic-surgery
#4
Sreyashi Sen, Koel Mitra, Shanta Ganguli, Sudakshina Mukherji
Haemophilia is an inherited bleeding disorder with variable deficiency of Factor VIII in the plasma and is characterised by bleeding into joints, muscles and tissues either spontaneously or in response to trivial trauma. Perioperative care requires multidisciplinary involvement. Perioperative management involves the risk of excessive bleeding from surgical site as well as spontaneous bleeding into the brain in response to surgical stress in patients with previous history of intracerebral haemorrhage. Airway management of such patients during anaesthetic intervention is a challenge and entails the risk of life threatening haemorrhage into the airway...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29547114/-effective-gene-therapy-for-hemophilia-at-last%C3%A2
#5
Bertrand Jordan
Recent efforts at gene therapy for haemophilia A and B using AAV-derived vectors show durable expression of coagulation factors at significant levels, resulting in almost complete correction of the phenotype. This is the first success of gene therapy for a major hereditary disorder, and shows how continuous improvement of many components of the system has finally succeeded. Although these results must be confirmed with more patients and longer durations, they constitute a significant accomplishment for this approach after decades of frustration...
March 2018: Médecine Sciences: M/S
https://www.readbyqxmd.com/read/29537123/first-year-results-of-an-expanded-humanitarian-aid-programme-for-haemophilia-in-resource-constrained-countries
#6
G F Pierce, A Haffar, G Ampartzidis, F Peyvandi, S Diop, M El-Ekiaby, H M van den Berg
INTRODUCTION: The gaps in haemophilia treatment around the world are enormous; approximately 60% of an estimated 475 000 individuals are not identified. Of the 187 000 diagnosed, 30% (57 000) access clotting factor replacement therapy. Since 1996, humanitarian aid distributed by the World Federation of Hemophilia (WFH) has played a minor, yet vital role providing life-saving clotting factor to countries in emergency situations. Donated amounts have been small and sporadic, often salvaging short-dated products, providing little opportunity to leverage donations with governments...
March 14, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29534249/cross-evaluation-of-pharmacokinetic-guided-dosing-tools-for-factor-viii
#7
T Preijers, I van Moort, K Fijnvandraat, F W G Leebeek, M H Cnossen, R A A Mathôt
BACKGROUND:  Patients with severe and moderate haemophilia A are treated prophylactically with factor VIII (FVIII) concentrate. Individualization of prophylaxis can be achieved by pharmacokinetic (PK)-guided dosing. AIM:  In this study, the performance of three PK tools (myPKFiT, Web-Accessible Population Pharmacokinetic Service-Hemophilia [WAPPS] and NONMEM) is compared. METHODS:  In 39 patients, with severe or moderate haemophilia A, blood samples were collected 4, 24 and 48 hours after administration of 50 IU kg-1 of recombinant FVIII (Advate [ n  = 30] or Kogenate [ n  = 9])...
March 2018: Thrombosis and Haemostasis
https://www.readbyqxmd.com/read/29493864/effectiveness-of-the-medtep-hemophilia-online-platform-for-adherence-to-prophylactic-treatment-in-haemophilia-patients-results-from-a-1-year-observational-study
#8
R Cuesta-Barriuso, J A López-Pina, J Nieto-Munuera, G Sagarra-Valls, J M Panisello-Royo, A Torres-Ortuño
INTRODUCTION: Medtep Hemophilia platform is an online tool that allows patients with congenital coagulopathies to keep track of their daily condition-related events with the objective of ensuring successful adherence to therapy. AIM: To assess the effectiveness of Medtep Hemophilia in improving adherence to prophylactic treatment in haemophilia A and B patients in a 1-year prospective observational study, as well as its impact on the patient's disease status. METHODS: Patients (>13 years old) received support material to familiarize themselves with Medtep Hemophilia...
March 1, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29465806/principles-of-haemophilia-care-the-asia-pacific-perspective
#9
REVIEW
S Dunkley, J C M Lam, M J John, R S M Wong, H Tran, R Yang, S C Nair, M Shima, A Street, A Srivastava
Optimal haemophilia care is best established and implemented through a well-coordinated plan guided by clearly defined principles and priorities. A document which enunciates those details is therefore important. A successful example of this approach is the definition of principles of haemophilia care (PHC) outlined by the European Association for Haemophilia and Associated Disorders (EAHAD) and also the World Federation of Hemophilia. A similar document applicable to the Asia-Pacific region must take into account not only the highly varied healthcare systems but also the tremendous socio-economic and cultural diversities which impact provision of such care...
February 21, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29418040/male-gender-school-attendance-and-sports-participation-are-positively-associated-with-health-related-quality-of-life-in-children-and-adolescents-with-congenital-bleeding-disorders
#10
P F Limperg, M M H Joosten, K Fijnvandraat, M Peters, M A Grootenhuis, L Haverman
BACKGROUND: This study assesses health-related quality of life (HRQOL), and variables associated with HRQOL, in children and adolescents with haemophilia and congenital bleeding disorders (CBD) in the Netherlands. METHODS: Patients <18 years with CBD under treatment at the Hemophilia Comprehensive Care Center of the Academic Medical Center were included. Participants completed generic HRQOL questionnaires (TAPQOL 0-5 years; PedsQL 6-18 years). Differences and effect sizes in HRQOL compared to healthy peers, and between hemophilia severity groups, were tested using Mann Whitney U-tests...
February 8, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29363389/real-world-analysis-of-dispensed-ius-of-coagulation-factor-ix-and-resultant-expenditures-in-hemophilia-b-patients-receiving-standard-half-life-versus-extended-half-life-products-and-those-switching-from-standard-half-life-to-extended-half-life-products
#11
Bartholomew J Tortella, José Alvir, Margaret McDonald, Dean Spurden, Patrick F Fogarty, Amit Chhabra, Andreas M Pleil
BACKGROUND: Hemophilia B requires replacement therapy with factor IX (FIX) coagulation products to treat and prevent bleeding episodes. A recently introduced extended half-life (EHL) recombinant FIX replacement product provided the opportunity to compare the amount of dispensed factor and expenditures for EHL treatment compared with a standard half-life (SHL) product. OBJECTIVE: To determine factor international units (IUs) dispensed and expenditures associated with switching from nonacog alfa, the most commonly used SHL replacement product, to eftrenonacog alfa, an EHL FIX replacement product...
January 24, 2018: Journal of Managed Care & Specialty Pharmacy
https://www.readbyqxmd.com/read/29218759/impact-of-pain-and-functional-impairment-in-us-adults-with-haemophilia-patient-reported-outcomes-and-musculoskeletal-evaluation-in-the-pain-functional-impairment-and-quality-of-life-p-fiq-study
#12
C L Kempton, M Recht, A Neff, M Wang, T W Buckner, A Soni, D Quon, M Witkop, L Boggio, R Z Gut, D L Cooper
INTRODUCTION: Standardized and disease-specific patient-reported outcome (PRO) instruments assessing pain, functional impairment and health-related quality of life (HRQoL) in people with haemophilia (PWH) have been used in studies, but infrequently in comprehensive care settings for individual assessment or treatment planning. AIM: To assess the impact of pain and functional impairment on HRQoL in PWH. METHODS: P-FiQ enrolled 381 adult PWH with a history of joint pain/bleeding and included 5 PROs and a clinical joint evaluation (Hemophilia Joint Health Score v2...
December 8, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29178325/the-spectrum-of-bleeding-in-women-and-girls-with-haemophilia-b
#13
REVIEW
J Staber, S E Croteau, J Davis, E F Grabowski, P Kouides, R F Sidonio
Although hemophilia B affects 1 in 25,000 males there may be 3 female hemophilia B carriers per affected male. This clinical review highlights the unique challenges faced by hemophilia B carriers including the under-recognition of bleeding symptoms associated with and without FIX deficiency, discrepancies in correlation between genotype and bleeding phenotype and therapeutic considerations utilizing clinical vignettes of common scenarios.
November 27, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29170251/clustered-f8-missense-mutations-cause-hemophilia-a-by-combined-alteration-of-splicing-and-protein-biosynthesis-and-activity
#14
Irving Donadon, John H McVey, Isabella Garagiola, Alessio Branchini, Mimosa Mortarino, Flora Peyvandi, Francesco Bernardi, Mirko Pinotti
Dissection of pleiotropic effects of missense mutations, rarely investigated in inherited diseases, is fundamental to understanding genotype-phenotype relationships. Missense mutations might impair mRNA processing in addition to protein properties. As a model for hemophilia A, we investigated the highly prevalent F8 c.6046c>t/p.R2016W (exon 19) mutation. In expression studies exploiting lentiviral vectors, we demonstrated that the amino acid change impairs both Factor VIII (FVIII) secretion (antigen 11.0±0...
February 2018: Haematologica
https://www.readbyqxmd.com/read/28944952/bypassing-agent-prophylaxis-in-people-with-hemophilia-a-or-b-with-inhibitors
#15
REVIEW
Chatree Chai-Adisaksopha, Sarah J Nevitt, Mindy L Simpson, Maissaa Janbain, Barbara A Konkle
BACKGROUND: People with hemophilia A or B with inhibitors are at high risk of bleeding complications. Infusion of bypassing agents, such as recombinant activated FVII (rFVIIa) and plasma-derived activated prothrombin complex concentrate, are suggested as alternative therapies to factor VIII (haemophilia A) or IX (haemophilia B) for individuals who no longer respond to these treatments because they develop inhibitory antibodies. The ultimate goal of treatment is to preserve the individual's joints, otherwise destroyed by recurrent bleeds...
September 25, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28780772/prophylaxis-use-among-males-with-haemophilia-b-in-the-united-states
#16
M Ullman, Q C Zhang, S D Grosse, M Recht, J M Soucie
INTRODUCTION: Prophylaxis is considered the optimal treatment for persons with moderate to severe haemophilia (factor activity between 1-5% of normal and <1% of normal respectively) in countries where safe factor concentrates are available and economically feasible. Historically, prophylactic treatment has not been well studied in the haemophilia B (HB) population due to difficulties in obtaining a sufficiently large sample. AIM: This study examines the prevalence of prophylaxis use among a robust sample of persons with HB in the United States and its association with specific demographic and clinical characteristics...
November 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28780767/ageing-successfully-with-haemophilia-a-multidisciplinary-programme
#17
E Boccalandro, M E Mancuso, S Riva, D M Pisaniello, F Ronchetti, E Santagostino, F Peyvandi, L P Solimeno, P M Mannucci, G Pasta
INTRODUCTION: Persons with haemophilia (PWH) born before the middle 1970s have spent a substantial part of their lives without the benefits of replacement therapy, that became available on a relative large scale only during the 1970s. As a consequence, this group of PWH, although still relatively young, suffers from musculoskeletal and functional problems that are typical of old people. METHODS: We report herewith the short-term results of a project based upon a multidisciplinary training programme led by a physiotherapist and an occupational therapist, that was implemented over a period of 12 months in 40 patients with severe or moderate hemophilia A or B born before the middle 1970s and regularly followed-up at a comprehensive haemophilia treatment centre in Italy...
January 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28772338/qualification-of-a-select-one-stage-activated-partial-thromboplastin-time-based-clotting-assay-and-two-chromogenic-assays-for-the-post-administration-monitoring-of-nonacog-beta-pegol
#18
S Tiefenbacher, R Bohra, J Amiral, A Bowyer, S Kitchen, A Lochu, S Rosén, M Ezban
Essentials Nonacog beta pegol (N9-GP) is an extended half-life, recombinant human factor IX (FIX). One-stage clotting (OSC) and chromogenic FIX activity assays were assessed for N9-GP recovery. OSC STA(®) -Cephascreen(®) , ROX FIX and BIOPHEN FIX chromogenic assays were qualified for N9-GP. Other extended half-life factor products should be assessed in a similar way prior to approval. SUMMARY: Background Nonacog beta pegol (N9-GP) is an extended half-life, glycoPEGylated recombinant human factor IX that is under development for the prophylaxis and treatment of bleeding episodes in hemophilia B patients...
October 2017: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/28574229/the-effects-of-joint-disease-inhibitors-and-other-complications-on-health-related-quality-of-life-among-males-with-severe-haemophilia-a-in-the-united-states
#19
J M Soucie, S D Grosse, A-E-A Siddiqi, V Byams, J Thierry, M M Zack, A Shapiro, N Duncan
INTRODUCTION: Health-related quality of life (HRQoL) is reduced among persons with haemophilia. Little is known about how HRQoL varies with complications of haemophilia such as inhibitors and joint disease. Estimates of preference-based HRQoL measures are needed to model the cost-effectiveness of prevention strategies. AIM: We examined the characteristics of a national sample of persons with severe haemophilia A for associations with two preference-based measures of HRQoL...
July 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28440005/comparing-the-burden-of-illness-of-haemophilia-between-resource-constrained-and-unconstrained-countries-the-s%C3%A3-o-paulo-toronto-hemophilia-study
#20
J D A Carneiro, V Blanchette, M C Ozelo, S V Antunes, P R Villaca, N L Young, D Castro, L R Brandão, M Carcao, A Abad, B M Feldman
INTRODUCTION: Although the regular replacement of clotting factor concentrates (prophylaxis) has been well established as the standard of care for severe haemophilia, the high cost of factor concentrates has limited access to prophylaxis in countries with under-developed or developing economies. AIMS: We studied the health gap that could be addressed by providing unlimited access to clotting factor concentrates with implementation of long-term prophylaxis initiated from an early age in life...
April 24, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
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