Navegação por Autor "Hughes, Derralynn A."
Resultados 1-10 de 10
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Cardio-renal outcomes with long-term alfa enzyme replacement therapy : a 10-year Fabry outcome survey (FOS) analysis
Ramaswami, Uma; Beck, Michael; Hughes, Derralynn A.; Kampmann, Christoph; Botha, Jaco; Pintos-Morell, G.; West, Michael L.; Niu, Dauming; Nicholls, Kathy; Giugliani, Roberto (2019) [Artigo de periódico]Purpose: Following the publication of 5-year agalsidase alfa enzyme replacement therapy (ERT) outcomes data from the Fabry Outcome Survey (FOS), 10-year data were analyzed. Patients and methods: FOS (ClinicalTrials.gov ... -
Clinical outcomes in a subpopulation of adults with Morquio A syndrome : results from a long-term extension study of elosulfase alfa
Hughes, Derralynn A.; Giugliani, Roberto; Guffon, Nathalie; Jones, Simon A.; Mengel, Karl Eugen; Parini, Rossella; Matousek, R.; Hawley, Sara M.; Quartel, Adrian (2017) [Artigo de periódico]Background: This post hoc subanalysis examined outcomes in adult patients with Morquio A (mucopolysaccharidosis IVA) who received enzyme replacement therapy (ERT) with elosulfase alfa over a 120-weeks period. Patients ≥18 ... -
Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat : a modified Delphi study
Bichet, Daniel G.; Hopkin, Robert J.; Aguiar, Patrício; Allam , Sridhar R.; Chien, Yin-Hsiu; Giugliani, Roberto; Kallish, Staci; Kineen, Sabina; Lidove, Olivier; Niu, Dauming; Olivotto, Iacopo; Politei, Juan Manuel; Rakoski, Paul; Torra, Roser; Tondel, Camilla; Hughes, Derralynn A. (2023) [Artigo de periódico]Objective: Fabry disease is a progressive disorder caused by deficiency of the α-galactosidase A enzyme (α-Gal A), leading to multisystemic organ damage with heterogenous clinical presentation. The addition of the oral ... -
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study
Germain, Dominique P.; Nicholls, Kathy; Giugliani, Roberto; Bichet, Daniel G.; Hughes, Derralynn A.; Barisoni, Laura; Colvin, Robert B.; Jennette, J. Charles; Skuban, Nina; Castelli, Jeffrey P.; Benjamin, Elfrida R.; Barth, Jay; Viereck, Christopher (2019) [Artigo de periódico]Purpose: Outcomes in patients with Fabry disease receiving migalastat during the phase 3 FACETS trial (NCT00925301) were evaluated by phenotype. Methods: Data were evaluated in two subgroups of patients with migalastat-amenable ... -
Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
Bichet, Daniel G.; Torra, Roser; Wallace, Eric; Hughes, Derralynn A.; Giugliani, Roberto; Skuban, Nina; Krusinska, Eva; Feldt-Rasmussen, Ulla; Schiffmann, Raphael; Nicholls, Kathy (2021) [Artigo de periódico]The effect of migalastat on long-term renal outcomes in enzyme replacement therapy (ERT)–naive and ERTexperienced patients with Fabry disease is not well defined. An integrated posthoc analysis of the phase 3 clinical ... -
Long-term outcomes with agalsidase alfa enzyme replacement therapy : analysis using deconstructed composite events
Beck, Michael; Hughes, Derralynn A.; Kampmann, Christoph; Pintos-Morell, G.; Ramaswami, Uma; West, Michael L.; Giugliani, Roberto (2017) [Artigo de periódico]This is a retrospective analysis of Fabry Outcome Survey data from children/adults (n =677) receiving agalsidase alfa enzyme replacement therapy for a median of 3 years, examining cerebrovascular, cardiac, and renal morbidity ... -
Migalastat HCl reduces globotriaosylsphingosine (Lyso- Gb3) in Fabry transgenic mice and in the plasma of Fabry patients
Young-Gqamana, Brandy; Brignol, N.; Chang, Hui-Hwa; Khanna, R.; Soska, R.; Fuller, Maria; Sitaraman, Sheela; Germain, Dominique P.; Giugliani, Roberto; Hughes, Derralynn A.; Mehta, Atul B.; Nicholls, Kathy; Boudes, Pol F.; Lockhart, D.J.; Valenzano, K.J.; Benjamin, Elfrida R. (2013) [Artigo de periódico]Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme a-galactosidase A (a-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine ... -
Migalastat improves diarrhea in patients with Fabry disease : clinical-biomarker correlations from the phase 3 FACETS trial
Schiffmann, Raphael; Bichet, Daniel G.; Jovanovic, Ana; Hughes, Derralynn A.; Giugliani, Roberto; Feldt-Rasmussen, Ulla; Shankar, S. P.; Barisoni, Laura; Colvin, Robert B.; Jennette, J. Charles; Holdbrook, Fred; Mulberg, Andrew E.; Castelli, Jeffrey P.; Skuban, Nina; Barth, Jay; Nicholls, Kathleen M. (2018) [Artigo de periódico]Background: Fabry disease is frequently characterized by gastrointestinal symptoms, including diarrhea. Migalastat is an orally-administered small molecule approved to treat the symptoms of Fabry disease in patients with ... -
Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease : experience from the Phase 3 ATTRACT study
Hughes, Derralynn A.; Nicholls, Kathleen M.; Sunder-Plassmann, G.; Jovanovic, Ana; Feldt-Rasmussen, Ulla; Schiffmann, Raphael; Giugliani, Roberto; Jain, Vipul; Viereck, Christopher; Castelli, Jeffrey P.; Skuban, Nina; Barth, Jay; Bichet, Daniel G. (2019) [Artigo de periódico] -
Twenty years of the Fabry Outcome Survey (FOS) : insights, achievements, and lessons learned from a global patient registry
Beck, Michael; Ramaswami, Uma; Hernberg-Stahl, E.; Hughes, Derralynn A.; Kampmann, Christoph; Mehta, Atul B.; Nicholls, Kathleen M.; Niu, Dauming; Pintos-Morell, G.; Reisin, Ricardo; West, Michael L.; Schenk, Jörn Magnus; Anagnostopoulou, Christina; Botha, Jaco; Giugliani, Roberto (2022) [Artigo de periódico]Background: Patient registries provide long-term, real-world evidence that aids the understanding of the natural history and progression of disease, and the efects of treatment on large patient populations with rare diseases. ...