BioMarin sets stage early for hemophilia cure off-Broadway

BioMarin Pharmaceutical Inc is turning to the theater to establish its name with hemophilia patients, long before its experimental cure for the bleeding disorder could reach the market.
Source: Reuters: Health - Category: Consumer Health News Tags: healthNews Source Type: news

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Abstract BACKGROUND: The current standard of care for patients with hemophilia A is regular prophylaxis with factor VIII (FVIII) administered intravenously. Interest in subcutaneous (s.c.) administration, to potentially increase convenience, reduce the treatment burden and improve compliance, is increasing. OBJECTIVES: Evaluate the pharmacokinetics (PK), immunogenicity, safety and preliminary efficacy of s.c. administration of turoctocog alfa pegol (s.c. N8-GP) in adult or adolescent previously treated patients (PTPs) with severe hemophilia A (alleviate 1; NCT02994407). PATIENTS/METHODS: In part A, 24 PT...
Source: Thrombosis and Haemostasis - Category: Hematology Authors: Tags: J Thromb Haemost 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
ConclusionsHemophilia A with high-titer inhibitors is a disease that generates significant pressure on the Colombian health system, mainly linked to the cost of factors and bypassing agents.
Source: Value in Health Regional Issues - Category: International Medicine & Public Health Source Type: research
We present a case of a 68-year-old Hispanic female with a history of factor VII deficiency who presented with shortness of breath, chest pain, and palpitations and was found to have pulmonary embolism. Our patient did not have any of the above-mentioned thrombotic risk factors. Our case and review of the literature show that factor VII deficiency does not provide protection against thrombosis. PMID: 31590173 [PubMed - as supplied by publisher]
Source: Acta Haematologica - Category: Hematology Authors: Tags: Acta Haematol Source Type: research
This study aimed to evaluate different aspects of hemophilia A in Afghanistan for the first time. This study was conducted on 167 patients with hemophilia A who were referred to hemophilia center of Kabul city. The diagnosis of the disease was performed based on standard questionnaire, evaluation of clinical manifestations and family history as well as laboratory assays. Diagnose of hemophilia A was confirmed by coagulation factor VIII (C: FVIII) assay. The mean age and mean age at diagnosis were 13.7 ± 2.4 and 1.4 ± 0.7 years, respectively. The mean FVIII level was 0.7 IU/dl. The most common clinic...
Source: Blood Coagulation and Fibrinolysis - Category: Hematology Tags: ORIGINAL ARTICLES Source Type: research
An 85-year-old woman was admitted  for examination of anemia and black stools. A blood test revealed a reduction in her hemoglobin level from 12.7 to 6.6 g/dL (7.9×103 to 4.1×103 mol/L) over a month, suggesting upper gastrointestinal bleeding. Esophagogastroduodenoscopy revealed a large esophageal polyp near the esophagogastric junction (Figure 1). The polyp that was fragile was accidentally resected and removed endoscopically. Histopathological examination of the resected specimen revealed a hematoma containing numerous Enterococcus faecalis bacterial masses without epithelial tissue (Figure 2).
Source: Mayo Clinic Proceedings - Category: Internal Medicine Authors: Tags: Medical image Source Type: research
CONCLUSIONS: These results show that low-normal FV levels can enhance thrombin generation in hemophilia A. Further explorations with the mathematical model suggest a potential mechanism: lowering FV reduces competition between FV and FVIII for FXa on activated platelet surfaces (APS), which enhances FVIII activation and rescues thrombin generation in FVIII-deficient blood. PMID: 31562694 [PubMed - as supplied by publisher]
Source: Thrombosis and Haemostasis - Category: Hematology Authors: Tags: J Thromb Haemost Source Type: research
CONCLUSION: This population PK model derived from real world data adequately describes FVIII levels following perioperative administration of the FVIII/VWF plasma-derived concentrate (Haemate® P/Humate P®) and will help to facilitate future dosing in VWD patients. PMID: 31557387 [PubMed - as supplied by publisher]
Source: Thrombosis and Haemostasis - Category: Hematology Authors: Tags: J Thromb Haemost Source Type: research
CONCLUSIONS: Our results provide HLAcII peptidomic level explanations for several important clinical observations/issues including the differential immunogenicity of distinct FVIIIs and the role of HLAcII genetics in inhibitor development. PMID: 31556206 [PubMed - as supplied by publisher]
Source: Thrombosis and Haemostasis - Category: Hematology Authors: Tags: J Thromb Haemost Source Type: research
ConclusionsThese findings suggest that SHED-HLC-based micro-hepatic tissues might be a promising source for treating pediatric refractory diseases, including chronic liver fibrosis and hemophilia A.
Source: Pediatric Surgery International - Category: Surgery Source Type: research
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