Publications & Posters | Amicus Therapeutics

Publications & Posters

WORLDSYMPOSIUM™ 2018

Pompe Disease

The patient and clinician point of view: living with late-onset Pompe disease

Updated results from ATB200-02: a first-in-human, open-label, phase 1/2 study of ATB200 co-administered with AT2221 in adults with Pompe disease

First-in-human preliminary pharmacokinetic data on a novel recombinant acid α-glucosidase, ATB200, co-administered with the pharmacological chaperone, AT2221, in patients with late-onset Pompe disease

Fabry Disease

Renal outcomes with up to 9 years of migalastat in patients with Fabry disease: results from an open-label extension study

A next-generation Fabry enzyme replacement therapy: a proprietary human α-galactosidase A co-formulated with a pharmacological chaperone, AT1001, shows greater substrate reduction than standard of care in Fabry mice

Cardiac outcomes with long-term migalastat treatment in patients with Fabry disease: results from phase 3 trials

Pregnancy outcome after exposure to migalastat: a case study


International Congress of the World Muscle Society – October 2017

First-in-Human Study of ATB200/AT2221 in Patients With Pompe Disease: Interim Results From the ATB200-02 Trial

Living With Late-Onset Pompe Disease: The Patient and Physician Point of View


International Congress of Inborn Errors of Metabolism (ICIEM) – September 2017

Response of Patients With Fabry Disease With the Amenable GLA Mutation p.N215S to Treatment With Migalastat

Effects of Treatment With Migalastat on the Combined Endpoint of Kidney Globotriaosylceramide Accumulation and Diarrhea in Patients With Fabry Disease: Results From the Phase 3 FACETS Study

Long-Term Migalastat Treatment Stabilizes Renal Function in Patients With Fabry Disease: Results From a Phase 3 Clinical Study (AT1001-041)

Efficacy and Safety of Migalastat, an Oral Pharmacological Chaperone for Fabry Disease: Renal Findings From Two Randomized Phase 3 Studies (FACETS and ATTRACT)

A Next-Generation Enzyme Replacement Therapy for Fabry Disease: Co-formulation of a Proprietary Recombinant Human α-Galactosidase A With a Pharmacological Chaperone Demonstrates Greater Substrate Reduction Than Agalsidase Beta in Mice

Improvements in Cardiac Mass With Long-Term Migalastat Treatment in Patients With Fabry Disease: Results From Two Phase 3 Trials (FACETS and ATTRACT)


WORLDSymposium™ 2017

Migalastat improves diarrhea in patients with Fabry disease: results from the FACETS double-blind, placebo-controlled phase 3 study

First-in-human preliminary pharmacokinetic and safety data on a novel recombinant acid-α-glucosidase, ATB200, co-administered with the pharmacological chaperone, AT2221, in ERT-experienced Pompe patients

Response of patients with Fabry disease with the amenable GLA mutation p.N215S to treatment with migalastat

Effects of Treatment With Migalastat on the Combined Endpoint of Kidney Globotriaosylceramide Accumulation and Diarrhea in Patients With Fabry Disease: Results From the Phase 3 FACETS Study

Migalastat exposures in Japanese healthy volunteers and non-Japanese subjects provide evidence that they are similar to Japanese patients with Fabry disease

Efficacy and safety of migalastat, an oral pharmacologic chaperone for Fabry disease: results from two randomized phase 3 studies, FACETS and ATTRACT

Efficacy of migalastat in a cohort of male patients with the classic Fabry phenotype in the FACETS phase 3 study

A novel recombinant human acid alpha-glucosidase, ATB200, leads to greater substrate reduction and improvement in Pompe disease-relevant markers compared to alglucosidase alfa in Gaa KO mice

Stabilized next-generation recombinant human acid alpha-glucosidase ATB200 clears accumulated glycogen and reverses cellular dysfunction to increase functional muscle strength in a mouse model of Pompe disease


Germain D.P., et al., The New England Journal of Medicine

Treatment of Fabry Disease with the Pharmacologic Chaperone Migalastat


WORLDSymposium™ 2016

Podocyte Globotriaosylceramide (GL-3) Content in Male Adult Patients with Fabry Disease Reduces Following 6-12 Months of Treatment with Migalastat

The Validation of Pharmacogenetics in the Identification of Fabry Patients for Treatment with Migalastat

Comparison of Integrated White Blood Cell Alpha-Galactosidase A Activity Exposure Between Every-Other-Day Orally Administered Migalastat and Biweekly Infusions of Agalsidase Beta or Agalsidase Alfa

Co-Administration of the Pharmacological Chaperone AT2221 with a Proprietary Recombinant Human Acid Alpha-Glucosidase Leads to Greater Plasma Exposure and Substrate Reduction Compared to Alglucosidase Alfa


American Society of Human Genetics (ASHG) – October 2015

Patients with Fabry Disease and Amenable Mutations Treated with Migalastat Show Reduced Left Ventricular Mass Index and Continue to Demonstrate Stable Renal Function over Three Years in a Phase 3 Extension Study

Strategy to Assess the Pharmacokinetics of a Proprietary Human Acid α-Glucosidase Containing High Mannose 6-Phosphate For Its Development As a Potential Next-Generation Treatment for Pompe Disease


Society for the Study of Inborn Errors of Metabolism Annual Symposium (SSIEM) – September 2015

Nine-year follow-up in a patient receiving migalastat pharmacological chaperone therapy for Fabry disease

Pharmacological chaperone-mediated reduction of glucosylsphingosine in a Gaucher mouse model

The Utility of Pharmacogenetics in the Identification of Fabry Patients Eligible for Treatment with Migalastat


WORLDSymposium™ 2015

Migalastat and Enzyme Replacement Therapy Have Comparable Effects on Renal Function in Fabry Disease: Phase 3 Study Results

Improvement in Gastrointestinal Symptoms Observed in the Phase 3 FACETS (AT1001-011) Study of Migalastat in Fabry Patients

Migalastat Reduces Left Ventricular Mass Index in Fabry Patients Naïve to ERT and Previously Treated With ERT

Accurate Quantitation of Plasma Globotriaosylsphingosine (lyso-Gb3 ) in Healthy Individuals and Fabry Patients by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Novel rhGAA with Optimal Glycosylation Is Signi¬cantly Better than Alglucosidase Alfa for Glycogen Clearance in Skeletal Muscles of Gaa KO Mice

Histological Examination of the Effect of a Highly Phosphorylated Proprietary Recombinant Human Acid α-Glucosidase on Glycogen Reduction in Disease-relevant Muscles of Pompe Mice


American Society of Nephrology Kidney Week 2014

Migalastat and Enzyme Replacement Therapy Have Comparable Effects on Renal Function in Fabry Disease: Phase 3 Study Results


64th Annual Meeting of the American Society of Human Genetics

Subjects with Fabry Disease Treated with Migalastat HCl Continue to Demonstrate Stable Renal Function in a Phase 3 Extension Study


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