Cargando…

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

BACKGROUND: Fabry disease (FD) is a genetic disorder resulting from deficiency of the lysosomal enzyme α-galactosidase A (α-Gal A), which leads to globotriaosylceramide (GL-3) accumulation in multiple tissues. We report on the safety and pharmacodynamics of migalastat hydrochloride, an investigation...

Descripción completa

Detalles Bibliográficos
Autores principales:	Germain, Dominique P, Giugliani, Roberto, Hughes, Derralynn A, Mehta, Atul, Nicholls, Kathy, Barisoni, Laura, Jennette, Charles J, Bragat, Alexander, Castelli, Jeff, Sitaraman, Sheela, Lockhart, David J, Boudes, Pol F
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3527132/ https://www.ncbi.nlm.nih.gov/pubmed/23176611 http://dx.doi.org/10.1186/1750-1172-7-91

Ejemplares similares

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb(3)) in Fabry Transgenic Mice and in the Plasma of Fabry Patients
por: Young-Gqamana, Brandy, et al.
Publicado: (2013)

A Pharmacogenetic Approach to Identify Mutant Forms of α-Galactosidase A that Respond to a Pharmacological Chaperone for Fabry Disease
por: Wu, Xiaoyang, et al.
Publicado: (2011)

Correction: Globotriaosylceramide Accumulation and Not Alpha-Galactosidase-A Deficiency Causes Endothelial Dysfunction in Fabry Disease
por: Namdar, Mehdi, et al.
Publicado: (2012)

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
por: Germain, Dominique P., et al.
Publicado: (2019)

Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease
por: Sueoka, Hideaki, et al.
Publicado: (2015)

Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase
por: Warnock, David G., et al.
Publicado: (2015)

A Novel Rapid MALDI-TOF-MS-Based Method for Measuring Urinary Globotriaosylceramide in Fabry Patients
por: Alharbi, Fahad J., et al.
Publicado: (2016)

Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial
por: Schiffmann, Raphael, et al.
Publicado: (2018)

Skin Globotriaosylceramide 3 Load Is Increased in Men with Advanced Fabry Disease
por: Üçeyler, Nurcan, et al.
Publicado: (2016)

Determination of globotriaosylceramide analogs in the organs of a mouse model of Fabry disease
por: Ishii, Satoshi, et al.
Publicado: (2020)

Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?
por: Tsukimura, Takahiro, et al.
Publicado: (2021)

Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease
por: Taguchi, Atsumi, et al.
Publicado: (2023)

Glycosphingolipid storage in Fabry mice extends beyond globotriaosylceramide and is affected by ABCB1 depletion
por: Kamani, Mustafa A, et al.
Publicado: (2016)

Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy
por: Gaggl, Martina, et al.
Publicado: (2016)

Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy
por: Hongo, Kenichi, et al.
Publicado: (2020)

The New Pharmacological Chaperones PBXs Increase α-Galactosidase A Activity in Fabry Disease Cellular Models
por: Besada, Pedro, et al.
Publicado: (2021)

Drug Repositioning for Fabry Disease: Acetylsalicylic Acid Potentiates the Stabilization of Lysosomal Alpha-Galactosidase by Pharmacological Chaperones
por: Monticelli, Maria, et al.
Publicado: (2022)

Coformulation of a Novel Human α-Galactosidase A With the Pharmacological Chaperone AT1001 Leads to Improved Substrate Reduction in Fabry Mice
por: Xu, Su, et al.
Publicado: (2015)

Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment
por: Mauer, Michael, et al.
Publicado: (2017)

Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice
por: Benjamin, Elfrida R, et al.
Publicado: (2012)

Serum Globotriaosylceramide Assay as a Screening Test for Fabry Disease in Patients with ESRD on Maintenance Dialysis in Korea
por: Kim, Jeong-Yup, et al.
Publicado: (2010)

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy
por: Liguori, Rocco, et al.
Publicado: (2017)

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study
por: Hughes, Derralynn A, et al.
Publicado: (2017)

Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease
por: Citro, Valentina, et al.
Publicado: (2016)

One Year of Enzyme Replacement Therapy Reduces Globotriaosylceramide Inclusions in Podocytes in Male Adult Patients with Fabry Disease
por: Najafian, Behzad, et al.
Publicado: (2016)

A Liquid Chromatography-Quadrupole-Time-of-Flight Mass Spectrometric Assay for the Quantification of Fabry Disease Biomarker Globotriaosylceramide (GB3) in Fabry Model Mouse
por: Shin, Seok-Ho, et al.
Publicado: (2018)

Optimizing human α-galactosidase for treatment of Fabry disease
por: Hallows, William C., et al.
Publicado: (2023)

Role of Globotriaosylceramide in Physiology and Pathology
por: Celi, Ana Beatriz, et al.
Publicado: (2022)

Strong increase of leukocyte apha‐galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy
por: Lamari, Foudil, et al.
Publicado: (2019)

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease
por: Bichet, Daniel G., et al.
Publicado: (2021)

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat
por: Benjamin, Elfrida R., et al.
Publicado: (2017)

Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease)
por: Hůlková, Helena, et al.
Publicado: (2010)

Risk of Death in Heart Disease is Associated With Elevated Urinary Globotriaosylceramide
por: Schiffmann, Raphael, et al.
Publicado: (2014)

Inhibition of tumor angiogenesis by globotriaosylceramide immunotargeting
por: Birklé, Stéphane, et al.
Publicado: (2013)

Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types
por: Welford, R W D, et al.
Publicado: (2018)

Comparative urinary globotriaosylceramide analysis by thin-layer chromatography-immunostaining and liquid chromatography-tandem mass spectrometry in patients with Fabry disease
por: Shiga, Tomoko, et al.
Publicado: (2021)

Long-term effectiveness of agalsidase alfa enzyme replacement in Fabry disease: A Fabry Outcome Survey analysis
por: Beck, Michael, et al.
Publicado: (2015)

Chaperone Therapy in Fabry Disease
por: Weidemann, Frank, et al.
Publicado: (2022)

Predicting the Development of Anti-Drug Antibodies against Recombinant alpha-Galactosidase A in Male Patients with Classical Fabry Disease
por: van der Veen, Sanne J., et al.
Publicado: (2020)

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study
por: Hughes, Derralynn A., et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_ap1j1mlsi20hkf5qu06cgif3g1