Blar i Bergen Open Research Archive på forfatter "Hughes, Derralynn A."
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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, Patricio; Allam, Sridhar R; Chien, Yin-Hsiu; Giugliani, Roberto; Kallish, Staci; Kineen, Sabina; Lidove, Olivier; Niu, Dau-Ming; Olivotto, Iacopo; Politei, Juan Manuel; Rakoski, Paul; Torra, Roser; Tøndel, Camilla; Hughes, Derralynn A. (Journal article; Peer reviewed, 2023-09-01)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 ... -
Early indicators of disease progression in Fabry disease that may indicate the need for disease-specific treatment initiation: Findings from the opinion-based PREDICT-FD modified Delphi consensus initiative
Hughes, Derralynn A.; Aguiar, Patricio; Deegan, Patrick B; Ezgu, Fatih; Frustaci, Andrea; Lidove, Olivier; Linhart, Aleš; Lubanda, Jean-Claude; Moon, James C; Nicholls, Kathleen; Niu, Dau-Ming; Nowak, Albina; Ramaswami, Uma; Reisin, Ricardo; Rozenfeld, Paula; Schiffmann, Raphael; Svarstad, Einar; Thomas, Mark; Torra, Roser; Vujkovac, Bojan; Warnock, David G.; West, Michael L; Johnson, Jack; Rolfe, Mark J; Feriozzi, Sandro (Journal article; Peer reviewed, 2020)Objectives The PRoposing Early Disease Indicators for Clinical Tracking in Fabry Disease (PREDICT-FD) initiative aimed to reach consensus among a panel of global experts on early indicators of disease progression that may ... -
An expert consensus on the recommendations for the use of biomarkers in Fabry disease
Burlina, Allesandro; Brand, Eva; Hughes, Derralynn A.; Kantola, Ilkka; Krämer, Johannes; Nowak, Albina; Tøndel, Camilla; Wanner, Christoph; Spada, Marco (Journal article; Peer reviewed, 2023)Fabry disease is an X-linked lysosomal storage disorder caused by the accumulation of glycosphingolipids in various tissues and body fluids, leading to progressive organ damage and life-threatening complications. Phenotypic ... -
Safety and efficacy of pegunigalsidase alfa in patients with Fabry disease who were previously treated with agalsidase alfa: results from BRIDGE, a phase 3 open-label study
Linhart, Aleš; Dostalova, Gabriela; Nicholls, Kathy; West, Michael; Tøndel, Camilla; Jovanovic, Ana; Giraldo, Pilar; Vujkovac, Bojan; Geberhiwot, T; Brill-Almon, Einat; Alon, Sari; Chertkoff, Raul; Rocco, Rossana; Hughes, Derralynn A. (Journal article; Peer reviewed, 2023)Background Pegunigalsidase alfa is a novel, PEGylated α-galactosidase-A enzyme-replacement therapy approved in the EU and US to treat patients with Fabry disease (FD). Objective/methods BRIDGE is a phase 3 open-label, ...