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Paula Rodriguez-Miguelez, Justin Gregg, Nichole Seigler, Leon Bass, Jeffrey Thomas, Jennifer S Pollock, Jennifer C Sullivan, Thomas A Dillard, Ryan A Harris
BACKGROUND: Cardiovascular diseases represent a hallmark characteristic in chronic obstructive pulmonary disease (COPD), and endothelial dysfunction has been observed in these patients. Tetrahydrobiopterin (BH4 ) is an essential cofactor for nitric oxide (NO) synthesis and a regulator of endothelial function. This study sought to test the hypothesis that a single dose of BH4 would improve endothelial function in patients with COPD via an increase in NO bioavailability. METHODS: 17 patients with COPD completed a randomized, double blind, placebo-controlled, crossover trial with an acute dose of either BH4 (Kuvan® , BioMarin Pharmaceuticals) or placebo (PLC)...
April 26, 2018: Chest
Angela Schulz, Temitayo Ajayi, Nicola Specchio, Emily de Los Reyes, Paul Gissen, Douglas Ballon, Jonathan P Dyke, Heather Cahan, Peter Slasor, David Jacoby, Alfried Kohlschütter
Background Recombinant human tripeptidyl peptidase 1 (cerliponase alfa) is an enzyme-replacement therapy that has been developed to treat neuronal ceroid lipofuscinosis type 2 (CLN2) disease, a rare lysosomal disorder that causes progressive dementia in children. Methods In a multicenter, open-label study, we evaluated the effect of intraventricular infusion of cerliponase alfa every 2 weeks in children with CLN2 disease who were between the ages of 3 and 16 years. Treatment was initiated at a dose of 30 mg, 100 mg, or 300 mg; all the patients then received the 300-mg dose for at least 96 weeks...
April 24, 2018: New England Journal of Medicine
Savita Rangarajan, Liron Walsh, Will Lester, David Perry, Bella Madan, Michael Laffan, Hua Yu, Christian Vettermann, Glenn F Pierce, Wing Y Wong, K John Pasi
BACKGROUND: Patients with hemophilia A rely on exogenous factor VIII to prevent bleeding in joints, soft tissue, and the central nervous system. Although successful gene transfer has been reported in patients with hemophilia B, the large size of the factor VIII coding region has precluded improved outcomes with gene therapy in patients with hemophilia A. METHODS: We infused a single intravenous dose of a codon-optimized adeno-associated virus serotype 5 (AAV5) vector encoding a B-domain-deleted human factor VIII (AAV5-hFVIII-SQ) in nine men with severe hemophilia A...
December 28, 2017: New England Journal of Medicine
Anthony Markham
Cerliponase alfa (Brineura™) is a recombinant human tripeptidyl peptidase-1 (TPP1) being developed by BioMarin Pharmaceutical Inc. for use in patients with neuronal ceroid lipofuscinosis type 2 (CLN2), a paediatric neurodegenerative disease caused by a deficiency in TPP1. CLN2 is characterised by progressive impairment of motor function, language deficiencies, seizures, ataxia, blindness and early death, and intracerebroventricular infusion of cerliponase alfa has been shown to reduce the progression of functional decline...
July 2017: Drugs
Sarah Thayer, Christopher Bell, Craig M McDonald
BACKGROUND: A Duchenne muscular dystrophy (DMD) cohort was identified using a claims-based algorithm to estimate health care utilization and costs for commercially insured DMD patients in the United States. Previous analyses have used broad diagnosis codes that include a range of muscular dystrophy types as a proxy to estimate the burden of DMD. OBJECTIVE: To estimate DMD-associated resource utilization and costs in a sample of patients identified via a claims-based algorithm using diagnosis codes, pharmacy prescriptions, and procedure codes unique to DMD management based on DMD clinical milestones...
June 2017: Journal of Managed Care & Specialty Pharmacy
L Hodgkinson, L Sorbera, A I Graul
Highly anticipated as new disease-modifying treatments for Duchenne muscular dystrophy (DMD), therapeutics by BioMarin Pharmaceutical (Kyndrisa™; drisapersen) and Sarepta Therapeutics (eteplirsen; AVI-4658) both recently received negative FDA reviews and are now facing battles for approval in the U.S. At present, BioMarin is committed to working with the FDA to forge a pathway to approval following the failure of its NDA, while Sarepta awaits the formal decision on its NDA, which is expected by late May 2016...
March 2016: Drugs of Today
Hsiang-Yu Lin, Chih-Kuang Chuang, Chung-Hsing Wang, Yin-Hsiu Chien, Yu-Mei Wang, Fuu-Jen Tsai, Yen-Yin Chou, Shio Jean Lin, Hui-Ping Pan, Dau-Ming Niu, Wuh-Liang Hwu, Yu-Yuan Ke, Shuan-Pei Lin
BACKGROUND: Information regarding the long-term outcome of enzyme replacement therapy (ERT) with recombinant human N-acetylgalactosamine 4-sulfatase (rhASB, galsulfase, Naglazyme®, BioMarin Pharmaceutical Inc.) for Taiwanese patients with mucopolysaccharidosis (MPS) VI is limited. METHODS: Nine Taiwanese patients with MPS VI (4 males and 5 females; age range, 1.4 to 21.1 years) treated with weekly intravenous infusions of galsulfase (1.0 mg/kg) in 5 medical centers in Taiwan were reviewed...
June 2016: Molecular Genetics and Metabolism Reports
Therese Ruane, Mark Haskins, Alphonsus Cheng, Ping Wang, Gustavo Aguirre, Van W Rafe Knox, Yulan Qi, Troy Tompkins, Charles A O'Neill
BACKGROUND: Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease characterized by an absence or marked reduction of lysosomal N-acetylgalactosamine-4-sulfatase activity. Affected individuals have widespread accumulation of unmetabolized glycosaminoglycan substrates leading to detrimental effects. Recombinant human N-acetylgalactosamine 4-sulfatase (rhASB) is an approved enzyme replacement therapy for patients with MPS VI. Despite the known efficacy of weekly 4-h rhASB infusions, some clinicians wish to treat patients using reduced infusion times...
February 2016: Molecular Genetics and Metabolism
Renato Mantegazza, Andreas Meisel, Joern P Sieb, Gwendal Le Masson, Claude Desnuelle, Mirko Essing
INTRODUCTION: Lambert-Eaton myasthenic syndrome (LEMS) is a rare autoimmune disorder affecting the neuromuscular junction, clinically characterized by proximal muscle weakness and autonomic changes. LEMS is often associated with an underlying tumor (paraneoplastic form) but also occurs in the absence of cancer (idiopathic form). Treatment consists of immunomodulation (immunosuppression), anticancer treatment when carcinoma is present, and symptomatic treatment [acetylcholinesterase inhibitors and potassium channel blockers, e...
December 2015: Neurology and Therapy
Adilson Costa, Elisangela Samartin Pegas Pereira, Elvira Cancio Assumpção, Felipe Borba Calixto Dos Santos, Fernanda Sayuri Ota, Margareth de Oliveira Pereira, Maria Carolina Fidelis, Raquel Fávaro, Stephanie Selma Barros Langen, Lúcia Helena Favaro de Arruda, Eva Nydal Abildgaard
BACKGROUND: Skin aging is a natural process that may be aggravated by environmental factors. Topical products are the conventional means to combat aging; however, the use of oral supplements is on the rise to assist in the management of aged skin. OBJECTIVE: The purpose of this study was to assess the effects and safety of an oral supplement containing (per tablet) marine protein (105 mg), vitamin C (27 mg), grape seed extract (13.75 mg), zinc (2 mg), and tomato extract (14...
2015: Clinical, Cosmetic and Investigational Dermatology
Iain Simpson, James Blakemore
This Industry Update covers the period from 1 January through 31 January, 2015, and is based on information sourced from company press releases, scientific literature, patents and various news websites. This month saw drugs from Shire and Janssen win fast track approval status from the US FDA which reduces the target time for the Agency to take action from 10 to 6 months. Sanofi and Regeneron also heard that they have won fast track approval for alirocumab a PCSK9 inhibitor for cholesterol lowering following their purchase of a 'Priority Review Voucher' from BioMarin...
April 2015: Therapeutic Delivery
Usha Rani Somaraju, Marcus Merrin
BACKGROUND: Phenylketonuria results from a deficiency of the enzyme phenylalanine hydroxylase. Dietary restriction of phenylalanine keeps blood phenylalanine concentration low. Most natural foods are excluded from diet and supplements are used to supply other nutrients. Recent publications report a decrease in blood phenylalanine concentration in some patients treated with sapropterin dihydrochloride. We examined the evidence for the use of sapropterin dihydrochloride to treat phenylketonuria...
2015: Cochrane Database of Systematic Reviews
Adrian Quartel, Christian J Hendriksz, Rossella Parini, Sue Graham, Ping Lin, Paul Harmatz
BACKGROUND: The skeletal phenotype of mucopolysaccharidosis VI (MPS VI) is characterized by short stature and growth failure. OBJECTIVE: The purpose of this study was to construct reference growth curves for MPS VI patients with rapidly and slowly progressive disease. METHODS: We pooled cross-sectional and longitudinal height for age data from galsulfase (Naglazyme(®), BioMarin Pharmaceutical Inc.), treatment naïve patients (n = 269) who participated in various MPS VI studies, including galsulfase clinical trials and their extension programs, the MPS VI clinical surveillance program (CSP), and the MPS VI survey and resurvey studies, to construct growth charts for the MPS VI population...
2015: JIMD Reports
K Haddley
Mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome, is an inherited, lysosomal storage disorder caused by genetic mutations in N-acetylgalactosamine-6-sulfatase (GALNS) enzyme gene. GALNS is essential for breakdown of glycosaminoglycans. The disease is characterized by the early onset of severe skeletal dysplasia resulting in significant disability by the second decade of life. Until recently there have been no available treatments other than surgery and palliative care. BioMarin Pharmaceutical developed elosulfase alfa, a recombinant human GALNS coproduced with sulfatase-modifying factor 1, as an enzyme replacement therapy for patients with MPS IVA...
July 2014: Drugs of Today
Nicola Longo, Cary O Harding, Barbara K Burton, Dorothy K Grange, Jerry Vockley, Melissa Wasserstein, Gregory M Rice, Alejandro Dorenbaum, Jutta K Neuenburg, Donald G Musson, Zhonghua Gu, Saba Sile
BACKGROUND: Phenylketonuria is an inherited disease caused by impaired activity of phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine, leading to accumulation of phenylalanine and subsequent neurocognitive dysfunction. Phenylalanine ammonia lyase is a prokaryotic enzyme that converts phenylalanine to ammonia and trans-cinnamic acid. We aimed to assess the safety, tolerability, pharmacokinetic characteristics, and efficacy of recombinant Anabaena variabilis phenylalanine ammonia lyase (produced in Escherichia coli) conjugated with polyethylene glycol (rAvPAL-PEG) in reducing phenylalanine concentrations in adult patients with phenylketonuria...
July 5, 2014: Lancet
Mark Sanford, Jin Han Lo
Elosulfase alfa (Vimizim™) is a recombinant form of N-acetylgalactosamine-6-sulfatase (GALNS) that was developed by BioMarin Pharmaceutical Inc. as an enzyme replacement therapy for patients with mucopolysaccharidosis type IVA (MPS IVA), also known as Morquio A syndrome. Patients with MPS IVA have a GALNS deficiency, which results in serious musculoskeletal, cardiorespiratory and other system disturbances. Elosulfase alfa was approved by the US FDA on 14 February 2014 for the treatment of MPS IVA. The European Medicines Agency Committee for Medicinal Products for Human Use (CHMP) has recently recommended that elosulfase alfa be approved for use in the EU in the same indication...
April 2014: Drugs
Roberto Catanzaro, Aldo Lorenzetti, Umberto Solimene, Nicola Zerbinati, Michele Milazzo, Gulcip Celep, Chiara Sapienza, Angelo Italia, Ascanio Polimeni, Francesco Marotta
Osteoarthritis (OA) is a slow, chronic joint disease characterized by focal degeneration of articular cartilage and alterations of the chemical and mechanical articular function and also major cause of pain and physical disability. There is clinical evidence that increasing dietary n-3 relative to n-6 may be beneficial in terms of symptom management in humans but not all studies conclude that dietary n-3 PUFA supplementation is of benefit, in the treatment of OA. Our recent studies highlight the effect of a biomarine compound (LD-1227) on MMPs, collagen metabolism and on chondrocyte inflammatory markers...
April 2013: Acta Bio-medica: Atenei Parmensis
Dafne D G Horovitz, Tatiana S P C Magalhães, Angelina Acosta, Erlane M Ribeiro, Liane R Giuliani, Durval B Palhares, Chong A Kim, Ana Carolina de Paula, Marcelo Kerstenestzy, Mara A D Pianovski, Maria Ione F Costa, Francisca C Santos, Ana Maria Martins, Carolina S Aranda, Jordão Correa Neto, Gervina Brady Moreira Holanda, Laércio Cardoso, Carlos A B da Silva, Renata C F Bonatti, Bethania F R Ribeiro, Maria do Carmo S Rodrigues, Juan C Llerena
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI) is a progressive, chronic and multisystem lysosomal storage disease with a wide disease spectrum. Clinical and biochemical improvements have been reported for MPS VI patients on enzyme replacement therapy (ERT) with rhASB (recombinant human arylsulfatase B; galsulfase, Naglazyme®, BioMarin Pharmaceutical Inc.), making early diagnosis and intervention imperative for optimal patient outcomes. Few studies have included children younger than five years of age...
May 2013: Molecular Genetics and Metabolism
Roberto Cerone, Generoso Andria, Marcello Giovannini, Vincenzo Leuzzi, Enrica Riva, Alberto Burlina
INTRODUCTION: Pharmacological levels of the phenylalanine hydroxylase enzyme cofactor, tetrahydrobiopterin (BH4), reduce plasma phenylalanine levels in some patients with phenylketonuria (PKU), providing the first pharmacological therapy for PKU. Responsiveness to this therapy must be determined empirically through a BH4 loading test or trial. The authors have analyzed the loading tests currently in use in light of the numerous factors that can influence their results. Sapropterin dihydrochloride is a stable, synthetic form of BH4 approved for treatment of PKU in responsive patients...
March 2013: Advances in Therapy
Timothy C Wood, Katie Harvey, Michael Beck, Maira Graeff Burin, Yin-Hsiu Chien, Heather J Church, Vânia D'Almeida, Otto P van Diggelen, Michael Fietz, Roberto Giugliani, Paul Harmatz, Sara M Hawley, Wuh-Liang Hwu, David Ketteridge, Zoltan Lukacs, Nicole Miller, Marzia Pasquali, Andrea Schenone, Jerry N Thompson, Karen Tylee, Chunli Yu, Christian J Hendriksz
Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc., met to develop recommendations for diagnosis. The following conclusions were reached...
March 2013: Journal of Inherited Metabolic Disease
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