Results 51 to 60 of about 167,688 (127)

Pegunigalsidase alfa: a novel, pegylated recombinant alpha-galactosidase enzyme for the treatment of Fabry disease

Frontiers in Genetics
Fabry disease, a rare X-linked genetic disorder, results from pathogenic variants in GLA, leading to deficient lysosomal α-galactosidase A enzyme activity and multi-organ manifestations. Since 2001, enzyme replacement therapy (ERT), using agalsidase alfa
Dominique P. Germain, Dominique P. Germain, Ales Linhart   +2 more
doaj   +1 more source

La terapia enzimatica sostitutiva nella malattia di Fabry

Giornale di Clinica Nefrologia e Dialisi, 2019
Anderson-Fabry disease (FD) is a X-linked lysosomal storage disorder, which involves glycosphingolipids metabolism. Specific treatment for FD has been available in the last two decades, after the development and commercialization of recombinant human ...
Letizia Roggero, Sara Auricchio, Federico Pieruzzi   +2 more
doaj   +1 more source

Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 3, May 2025.
ABSTRACT This paper reviews biomarkers in lysosomal disease according to their categories and definitions. There are numerous biomarkers in lysosomal diseases. Some are disease or organ‐specific, but most are not. Organ‐specific biomarkers are especially useful, but most biomarkers help with diagnosis, assessing disease severity, prognosis, and ...
Raphael Schiffmann
wiley   +1 more source

Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient‐Centered Approach

JIMD Reports, Volume 66, Issue 2, March 2025.
ABSTRACT Despite life‐long pharmacotherapy for many people affected by lysosomal storage diseases, no data are available on their beliefs about their treatments. Therapeutic options range from disease‐specific, with varying levels of effectiveness, to purely supportive.
Eleonore M. Corazolla, Mirjam Langeveld, Marion M. M. G. Brands, Barbara Sjouke, Carla E. M. Hollak   +4 more
wiley   +1 more source

A Fabry Disease Patient Who Developed Hypersensitivity Reaction against Agalsidase Beta following COVID-19 Infection

, 2023
Fabry disease (FD) is a rare, X-linked inherited lysosomal storage disorder, characterized by the accumulation of globotriaosylceramide (Gb3) due to the deficiency or absence of alpha-galactosidase A.
SEYAHİ, Nurhan, SÖNMEZ, Özge, TRABULUS, SİNAN, ÖZCAN, ŞEYDA GÜL   +3 more
core   +1 more source

Renal and multisystem effectiveness of 3.9 years of migalastat in a global real‐world cohort: Results from the followME Fabry Pathfinders registry

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Fabry disease is a progressive, X‐linked lysosomal disorder caused by reduced or absent α‐galactosidase A activity due to GLA variants. The effects of migalastat were examined in a cohort of 125 Fabry patients with migalastat‐amenable GLA variants in the followME Pathfinders registry (EUPAS20599), an ongoing, prospective, patient‐focused ...
Derralynn A. Hughes, Gere Sunder‐Plassmann, Ana Jovanovic, Eva Brand, Michael L. West, Daniel G. Bichet, Antonio Pisani, Albina Nowak, Roser Torra, Aneal Khan, Olga Azevedo, Anna Lehman, Aleš Linhart, Jasmine Rutecki, Joseph D. Giuliano, Eva Krusinska, Peter Nordbeck   +16 more
wiley   +1 more source

A phase III, open‐label clinical trial evaluating pegunigalsidase alfa administered every 4 weeks in adults with Fabry disease previously treated with other enzyme replacement therapies

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Pegunigalsidase alfa, a PEGylated α‐galactosidase A enzyme replacement therapy (ERT) for Fabry disease, has a longer plasma half‐life than other ERTs administered intravenously every 2 weeks (E2W). BRIGHT (NCT03180840) was a phase III, open‐label study in adults with Fabry disease, previously treated with agalsidase alfa or beta E2W for ≥3 ...
Myrl Holida, Aleš Linhart, Antonio Pisani, Nicola Longo, François Eyskens, Ozlem Goker‐Alpan, Eric Wallace, Patrick Deegan, Camilla Tøndel, Ulla Feldt‐Rasmussen, Derralynn Hughes, Anat Sakov, Rossana Rocco, Einat Brill Almon, Sari Alon, Raul Chertkoff, David G. Warnock, Stephen Waldek, William R. Wilcox, John A. Bernat   +19 more
wiley   +1 more source

Safety analysis of self-administered enzyme replacement therapy using data from the Fabry Outcome and Gaucher Outcome Surveys

Orphanet Journal of Rare Diseases
Background Fabry disease and Gaucher disease are rare genetic disorders characterized by defective degradation of glycosphingolipids caused by enzymatic deficiencies in α–galactosidase A and β–glucocerebrosidase, respectively, and often require life-long
Shoshana Revel-Vilk, Uma Ramaswami, Guillem Pintos-Morell, Derralynn Hughes, Kathy Nicholls, Ricardo Reisin, Roberto Giugliani, Ozlem Goker-Alpan, Majdolen Istaiti, Aidan Gill, Maurizio Scarpa, Jaco Botha   +11 more
doaj   +1 more source

Anti-drug antibody formation in Japanese Fabry patients following enzyme replacement therapy

Molecular Genetics and Metabolism Reports, 2020
Enzyme replacement therapy (ERT) for Fabry disease (deficiency of α-galactosidase A, α-Gal) with recombinant α-Gals (agalsidase alfa and agalsidase beta) is widely available and improves some of the clinical manifestations and biochemical findings ...
Takahiro Tsukimura, Yuya Tayama, Tomoko Shiga, Kanako Hirai, Tadayasu Togawa, Hitoshi Sakuraba   +5 more
doaj   +1 more source

Effect of reduced agalsidase beta dosage in fabry patients: The Australian experience

, 2012
BACKGROUND: In Australia, enzyme replacement therapy (ERT) for Fabry Disease (FD), both Agalsidase alfa (Replagal, Shire HGT) and beta (Fabrazyme, Genzyme), is funded and monitored through a specific government program.
Sillence, D, Chapman, I, Nicholls, K, Goldblatt, J, Ghali, J, Thomas, M, Fletcher, J, Denaro, C   +7 more
core   +1 more source