Results 71 to 80 of about 1,275 (171)

Analysis of long-term observations of the large group of Russian patients with Hunter syndrome (mucopolysaccharidosis type II)

BMC Medical Genomics, 2021
Background This article presents the results of long-term observations and comparative analysis of genotype–phenotype features in a large group of patients (227 males and one female) with a severe, intermediate and mild form of Hunter syndrome ...
Alla Nikolaevna Semyachkina, Elena Yurievna Voskoboeva, Ekaterina Alexandrovna Nikolaeva, Ekaterina Yurievna Zakharova   +3 more
doaj   +1 more source

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act [PDF]

, 2015
Background: Lysosomal storage disorders are a heterogeneous group of approximately 50 monogenically inherited orphan conditions. A defect leads to the storage of complex molecules in the lysosome, and patients develop a complex multisystemic phenotype of
Hoffmann, Georg Friedrich, Mechler, Konstantin, Mountford, William K., Ries, Markus   +3 more
core   +1 more source

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

Whole body correction of mucopolysaccharidosis IIIA by intracerebrospinal fluid gene therapy [PDF]

, 2013
For most lysosomal storage diseases (LSDs) affecting the CNS, there is currently no cure. The BBB, which limits the bioavailability of drugs administered systemically, and the short half-life of lysosomal enzymes, hamper the development of effective ...
Albert Ribera, Albert Ruzo, Anna Andaluz, Eduard Ayuso, Enns, Fatima Bosch, Federico Mingozzi, Gemma García-Fructuoso, Hemsley, Hemsley, Jesús Ruberte, Luca Maggioni, Maria Molas, Martí Pumarola, Mercedes Pineda, Miguel Garcia, Mingozzi, Pilar Villacampa, Sandra Motas, Sara Marcó, Sergio Muñoz, Sònia Añor, Virginia Haurigot   +22 more
core   +2 more sources

Pharmacokinetics and bioavailability of a therapeutic enzyme (idursulfase) in cynomolgus monkeys after intrathecal and intravenous administration. [PDF]

PLoS ONE, 2015
Intravenous enzyme replacement therapy with iduronate-2-sulfatase is an approved treatment for Hunter syndrome, however, conventional intravenous delivery cannot treat the neurologic manifestations of the disease due to its limited central nervous system
Hongsheng Xie, Jou-Ku Chung, Mary Ann Mascelli, Thomas G McCauley   +3 more
doaj   +1 more source

Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.
ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley   +1 more source

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study. [PDF]

, 2015
The primary treatment outcomes of a phase 2, randomized, double-blind, pilot study evaluating safety, physiological, and pharmacological effects of elosulfase alfa in patients with Morquio A syndrome are herewith presented.
Berger, Kenneth I, Burton, Barbara K, Genter, Fred, Harmatz, Paul, Jones, Simon A, Lau, Heather, Lewis, Gregory D, Mitchell, John J, Muschol, Nicole, Pastores, Gregory M, Shaywitz, Adam J, Sparkes, Rebecca, Sutton, V Reid, Tarnopolsky, Mark, Treadwell, Marsha   +14 more
core   +1 more source

A Retrospective Study of Mucopolysaccharidosis Type II in Brazil - Data from Brazilian Health System (DATASUS)

Journal of Inborn Errors of Metabolism and Screening, 2023
Data on Mucopolysaccharidosis type II (MPS II) in Latin America are scarce. This retrospective database study, using data from the Informatics Department of the Brazilian Health System (DATASUS), aimed to estimate the prevalence of MPSII in Brazil from ...
Fernanda Tenório, Carolina Fischinger Moura de Souza   +1 more
doaj   +1 more source

Systematic review of available evidence on 11 high-priced inpatient orphan drugs [PDF]

, 2013
__Background__: Attention for Evidence Based Medicine (EBM) is growing, but evidence for orphan drugs is argued to be limited and inferior. This study systematically reviews the available evidence on clinical effectiveness, costeffectiveness and budget ...
Hakkaart-van Roijen, L. (Leona), Kanters, T.A. (Tim), Redekop, W.K. (Ken), Sonneville, C. (Caroline) de   +3 more
core   +3 more sources

Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study. [PDF]

, 2014
ObjectiveTo assess the efficacy and safety of enzyme replacement therapy (ERT) with BMN 110 (elosulfase alfa) in patients with Morquio A syndrome (mucopolysaccharidosis IVA).MethodsPatients with Morquio A aged ≥5 years (N = 176) were randomised (1:1:
A McDonald, AE Lammers, AM Li, AM Montaño, American Thoracic Society, American Thoracic Society, Barbara Burton, C Hendriksz, Christian J. Hendriksz, CJ Hendriksz, DB Rubin, Debra Lounsbury, Derralynn Hughes, E Yasuda, Eugen Mengel, J Muenzer, J Muenzer, J Nelson, J Nelson, JE Wraith, LA Clarke, LA Martell, M Dvorak-Ewell, Maurizio Scarpa, MF Algahim, P Harmatz, P Harmatz, P Harmatz, P Harmatz, Paul Harmatz, Peter Slasor, R Aslam, RJ Barst, RJA Butland, Roberto Giugliani, S Tomatsu, Shuan-Pei Lin, Simon A. Jones, Thomas R. Fleming, TR Fleming, Vassili Valayannopoulos, VC Dũng, Wolfgang Dummer, Y Hochberg   +43 more
core   +2 more sources