Hemophilia, The Musical? It ’s Funded By Biotech BioMarin

Rare disease drug company BioMarin put on a show called ‘Hemophilia: The Musical’ performed by teenagers affected by blood disorders.
Source: Forbes.com Healthcare News - Category: Pharmaceuticals Authors: Source Type: news

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CONCLUSION: Haemophilic patients went to the Emergency Department for common paediatric causes, but also requested consultation on specific problems related to haemophilia, with musculoskeletal problems/injury or bleeding being the main issues. The paediatric Emergency Department is an indispensable component of haemophilia care. PMID: 31171477 [PubMed - as supplied by publisher]
Source: Anales de Pediatria - Category: Pediatrics Authors: Tags: An Pediatr (Barc) Source Type: research
An external jugular vein (EJV) aneurysm is an extremely rare disease. Ultrasonography with color doppler methods is considered the criterion standard for diagnosis of a venous aneurysm. The treatment of choice for an EJV aneurysm is surgical excision. Herein, we report an unusual case of an EJV aneurysm in a child with hemophilia A. Because the incidence of an EJV aneurysm is low, it is important to distinguish it from other neck lesions, including congenital disease. In addition, it should be noted that in hemophilia patients, an EJV aneurysm may occur in a spontaneous or small trauma.
Source: Journal of Craniofacial Surgery - Category: Surgery Tags: Brief Clinical Studies Source Type: research
Reena Goswami1, Gayatri Subramanian2, Liliya Silayeva1, Isabelle Newkirk1, Deborah Doctor1, Karan Chawla2, Saurabh Chattopadhyay2, Dhyan Chandra3, Nageswararao Chilukuri1 and Venkaiah Betapudi1,4* 1Neuroscience Branch, Research Division, United States Army Medical Research Institute of Chemical Defense, Aberdeen, MD, United States 2Department of Medical Microbiology and Immunology, University of Toledo College of Medicine and Life Sciences, Toledo, OH, United States 3Roswell Park Comprehensive Cancer Center, Buffalo, NY, United States 4Department of Physiology and Biophysics, Case Western Reserve University, Clev...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Roche Holding has entered a definitive merger agreement with Spark Therapeutics, as the Swiss drugmaker seeks to expand its ability to treat rare diseases through gene therapies, as well as build its hemophilia portfolio.
Source: PharmaManufacturing.com - Category: Pharmaceuticals Source Type: news
This study sought to identify hemophilia carriers in C ôte d’Iv...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
In this study, the potential of PF-06741086 to restore thrombin generation in rare disease plasma was explored.Thrombin generation was measured in citrated platelet poor Factor XI (FXI), Factor V (FV), FVII, von Willebrand Factor (vWF) deficient (Type 1, 2A, 2B and 3) congenital donor plasma following the in vitro addition of PF-06741086 (0, 1, 10 or 100 nM) or a human IgG1 antibody; initiated with 1 pM TF and 4 µM phospholipid. FXI, FV, and FVII donors had less than 1% coagulation factor activity. Non-hemophilic plasma from healthy donors alone was also included in the analysis. In FXI deficient plasmas, a concentra...
Source: Blood - Category: Hematology Authors: Tags: 321. Blood Coagulation and Fibrinolytic Factors: Poster II Source Type: research
Patients with hemophilia and inhibitors generally face greater disease burden compared to patients without inhibitors. While raising awareness of relative burden may improve the standard of care for patients w...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
The objective is to eval...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
ConclusionsA pharmacometric approach guided the phase III dose selection of emicizumab in hemophilia A, without conducting a conventional dose-finding study. Phase III studies with the selected dosing regimens are currently ongoing. This case study indicates that a pharmacometric approach can substitute for a conventional dose-finding study in rare diseases and will streamline the drug development process.
Source: Clinical Pharmacokinetics - Category: Drugs & Pharmacology Source Type: research
CONCLUSIONS: Acquired hemophilia A is a rare but potentially severe disease, which may be idiopathic or linked to a solid tumor. The severity of AHA depends on both the volume of hemorrhage and the presence of associated diseases. PMID: 30098880 [PubMed - as supplied by publisher]
Source: Revue des Maladies Respiratoires - Category: Respiratory Medicine Tags: Rev Mal Respir Source Type: research
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