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Posters, Abstracts & Publications
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Posters, Abstracts & Publications
Posters, Abstracts & Publications
Posters from Recent Scientific Congresses
10th Annual Lysosomal Disease Network WORLD Symposium (LDN WORLD) – February 2014
Chemical Conjugation of Targeting Peptide to ERTs Improve Receptor Binding and Substrate Clearance in Mouse Models of Disease
Subcutaneous Administration of Recombinant Human Acid Alpha-Glucosidase Co-formulated with the Pharmacological Chaperone AT2220 Leads to Lysosomal Uptake of rhGAA and Glycogen Reduction in Disease-relevant Tissues of Pompe Mice
Strategy to Assess the Effect of Duvoglustat Co-administered with Alglucosidase Alfa Infusion on the Immune Response to Enzyme Replacement Therapy for Pompe Disease
Liquid Chromatography-Tandem Mass Spectrometry Determination of AT2220 in Rodent Plasma and Tissues
Phase 3 Study (FACETS) of Migalastat HCl for Fabry Disease: Post hoc GLA Mutation-Based Identification of Subjects Likely to Show a Drug Effect
9th Annual Lysosomal Disease Network WORLD Symposium (LDN WORLD) – February 2013
A Phase 2a Study to Investigate the Effect of a Single Dose of Migalastat HCl on Active Agalsidase Activity in Fabry Patients Receiving Enzyme Replacement Therapy
A Phase 2a Study to Investigate the Effect of AT2220 (Duvoglustat HCl) on the Pharmacokinetics of Acid α-Glucosidase in Subjects with Pompe Disease
Exploring the Use of a Co‐Formulated Pharmacological Chaperone AT2220 with Recombinant Human Acid α‐Glucosidase for Pompe Disease
The Origins of Glucosylsphingosine in Gaucher Disease
American Society of Human Genetics (ASHG) – November 2012
Long-Term Safety of Migalastat HCl in Patients with Fabry Disease
Preliminary Results from an Ongoing Phase 2a Study to Investigate the Effect of a Single Dose of Migalastat HCl on Active Agalsidase Levels in Fabry Patients Receiving Enzyme Replacement Therapy
International World Muscle Society Congress (WMS) – October 2012
An Ongoing Phase 2a Study to Investigate the Effect of AT2220 (Duvoglustat HCl) on the Pharmacokinetics of Acid α-Glucosidase in Subjects with Pompe Disease: Preliminary Results
Society for the Study of Inborn Errors of Metabolism (SSIEM) – September 2012
Migalastat HCl, an Investigational Pharmacological Chaperone Therapy: Screening Results from FACETS, a Phase 3 Study in Male and Female Fabry Patients.
An Ongoing Phase 2a Study to Investigate the Effects of AT2220 (duvoglustat HCl) on the Pharmacokinetics of Acid Alpha-Glucosidase in Subjects with Pompe Disease - Preliminary Results.
A Novel Phase 2a Study Design to Investigate the Effect of AT2220 (duvoglustat HCl) on the Pharmacokinetics of Acid Alpha-Glucosidase in Subjects with Pompe Disease.
8th Annual Lysosomal Disease Network WORLD Symposium (LDN WORLD) – February 2012
Preliminary Results from an Ongoing Phase 2a Study to Investigate the Effect of a Single Dose of Migalastat HCl, a Pharmacological Chaperone, on Agalsidase Activity in Subjects with Fabry Disease
Oral Migalastat HCl as an Investigational Therapy Evaluated in Females with Fabry Disease
Evaluation of globotriaosylceramide (GL-3) accumulation in 18 patients with Fabry disease nephropathy. Podocytes are more severely affected than peritubular capillaries.
Exploring the Use of the Pharmacological Chaperone AT3375 Alone and in Combination with Recombinant Human Acid β-Glucosidase for Gaucher Disease
Glucosylceramide Quantitation in Normal and Glucocerebrosidase-Deficient Mouse Brain and Human Cell Lines
Safety and Pharmacodynamic Effects of a Pharmacological Chaperone on Alpha-Galactosidase A Activity and Globotriaosylceramide Clearance in Fabry disease: Report from Two Phase 2 Clinical Studies
Orphanet Journal of Rare Diseases
: 2012, 7:91 doi:10.1186/1750-1172-7-91
A Phase 2 Study of Migalastat Hydrochloride in Females with Fabry Disease: Selection of Population, Safety and Pharmacodynamic Effects
Molecular Genetics and Metabolism
: 2013, doi:10.1016/j.ymgme.2013.01.009.
Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients
8(3): e57631. doi:10.1371/journal.pone.0057631
A Novel, Quantitative Method to Evaluate GL-3 Inclusions in Renal Peritubular Capillaries by Virtual Microscopy in Patients with Fabry Disease
Archives of Pathology & Laboratory Medicine
: July 2012, Vol. 136, No. 7, pp. 816-824.
Pharmacokinetics and Safety of Migalastat HCl and Effects on Agalsidase Activity in Healthy Volunteers
Clinical Pharm in Drug Dev.
Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice
: April 2012, Vol. 20, No. 4, pp. 717–726.
The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease
(2012) 7(7): e40776. doi:10.1371/journal.pone.0040776.
A Pharmacogenetic Approach to Identify Mutant Forms of a-Galactosidase A that Respond to a Pharmacological Chaperone for Fabry Disease
: July 2011, Vol. 32, No. 8, pp. 965–977.
Fabry Disease: Polymorphic Haplotypes and a Novel Missense Mutation in the GLA gene
2011 Apr 25. j.1399-0004.01689.x.
Sex Differences of Urinary and Kidney Globotriaosylceramide and Lyso-Globotriaosylceramide in Fabry Mice
J Lipid Res.
2011 Sep; 52(9):1742-6.
The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease
: 2010 Jan; 18(1):23-33. doi: 10.1038/mt.2009.220.
The Pharmacological Chaperone 1-Deoxynojirimycin Increases the Activity and Lysosomal Trafficking of Multiple Mutant Forms of Acid Alpha-Glucosidase
: December 2009, Vol. 30, No. 12, pp.1683-92.
Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases
J. Med. Chem.
(2013), DOI: 10.1021/jm301557k
Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders
Assay Drug Dev Technol.
New Pathway Links γ-Secretase to Inflammation and Memory While Sparing Notch
The Pharmacological Chaperone Isofagomine Increases the Activity of the Gaucher Disease L444P Mutant Form of β-Glucosidase
, April 2010; 277(7): 1618–1638.
Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-β Peptide
The Journal of Neuroscience
, April 11, 2012 32(15):5223–5236.
What's Missing in Lysosomal Storage Diseases?
(pdf - 1.6MB)
About Pharmacological Chaperones
(pdf - 640KB)
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