Publications & Posters | Amicus Therapeutics

Publications & Posters

Note: The data presented for approved products may not be consistent with the approved label in all regions.

Pompe Disease

Xu S et al. Advanced and Targeted acid α-glucosidase (AT-GAA): a novel next-generation therapy for Pompe disease with improved efficacy in mice. Presented at the International Congress on Neuromuscular Disease (ICNMD) 2018; July 6-10, 2018; Vienna, Austria. Poster 821.

Patel N, et al. The Patient and Clinician Point of View: Living With Late-onset Pompe Disease. Supported by Amicus Therapeutics, Inc. Presented at the 14th Annual WORLDSymposium™; February 5-9, 2018; San Diego, CA.

Mozaffar T, et al. Updated Results From ATB200-02: A First-in-Human, Open-Label, Phase 1/2 Study of ATB200 Coadministered With AT2221 in Adults With Pompe Disease. Presented at the 14th Annual WORLDSymposium™; February 5-9, 2018; San Diego, CA.

Johnson FK et al. 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. Presented at the 14th Annual WORLDSymposium™; February 5-9, 2018; San Diego, CA.

Roberts M et al. First-in-Human Study of ATB200/AT2221 in Patients With Pompe Disease: Interim Results From the ATB200-02 Trial. Presented at the 22nd International Congress of the World Muscle Society; October 3-7, 2017; St. Malo, France.

Patel N et al. Living With Late-Onset Pompe Disease: The Patient and Physician Point of View. Presented at the 22nd International Congress of the World Muscle Society; October 3-7, 2017; St. Malo, France.

Johnson FK et al. 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 Patients With Pompe Disease. Presented at the 13th Annual WORLDSymposium™; February 13-17, 2017; San Diego, CA, USA.

Lun Y et al. 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. Presented at 13th Annual WORLDSymposium™; February 13-17, 2017; San Diego, CA, USA.

Do H et al. 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. Presented at 13th Annual WORLDSymposium™; February 13-17, 2017; San Diego, CA, USA.

Khanna R et al. Co-Administration of the Pharmacological Chaperone AT2221 with A Proprietary Recombinant Human Acid α-Glucosidase Leads to Greater Plasma Exposure and Substrate Reduction Compared to Alglucosidase Alfa. Presented at The World Symposium for Lysosomal Disorders Annual Meeting March, 2016 San Diego, CA.

Benjamin ER et al. 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. Presented at The American Society of Human Genetics Meeting October 2015.

Gotschall R et al. Novel rhGAA with Optimal Glycosylation Is Signicantly Better than Alglucosidase Alfa for Glycogen Clearance in Skeletal Muscles of Gaa KO Mice. Presented at The World Symposium for Lysosomal Disorders Annual Meeting March, 2015 San Diego, CA.

Lun Y et al. 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. Presented at The World Symposium for Lysosomal Disorders Annual Meeting March, 2015 San Diego, CA.

Dungan LB et al. Liquid Chromatography – Tandem Mass Spectrometry Determination of AT2220 in Rodent Plasma and Tissues. Presented at 10th Annual Lysosomal Disease Network WORLD Symposium (LDN WORLD). February 2014.

Lun Y et al. Subcutaneous Administration of Recombinant Human Acid a-Glucosidase Co-formulated with the Pharmacological Chaperone AT2220 Leads to Lysosomal Uptake of rhGAA and Glycogen Reduction in Disease-relevant Tissues of Pompe Mice. Presented at 10th Annual Lysosomal Disease Network WORLD Symposium (LDN WORLD). February 2014.

Benjamin ER et al. Strategy to Assess the Effect of Duvoglustat Co-administered with Alglucosidase Alfa Infusion on the Immune Response to Enzyme Replacement Therapy for Pompe Disease. Presented at 10th Annual Lysosomal Disease Network WORLD Symposium (LDN WORLD). February 2014.

Kishnani P et al. A Phase 2a Study to Investigate the Effect of AT2220 (Duvoglustat HCl) on the Pharmacokinetics of Acid α-Glucosidase in Subjects with Pompe Disease. Presented at The World Symposium for Lysosomal Disorders Annual Meeting February, 2013 Orlando, FL.

Lun Y et al. Exploring the Use of a Co‐formulated Pharmacological Chaperone AT2220 with Recombinant Human Acid a‐Glucosidase for Pompe Disease. Presented at The World Symposium for Lysosomal Disorders Annual Meeting February, 2013 Orlando, FL.

Kishnani P et al. 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. Presented at the International World Muscle Society Congress, October 2012.

Lun Y et al. Exploring the Use of a Co‐formulated Pharmacological Chaperone AT2220 with Recombinant Human Acid a‐Glucosidase for Pompe Disease. Presented at the International World Muscle Society Congress, October 2012.

Fabry Disease

Schiffmann R et al. Effects of long-term migalastat treatment on renal function by baseline proteinuria in patients with Fabry disease. Presented at the 55th ERA-EDTA Congress; May 24-27, 2018; Copenhagen, Denmark. Poster SP004.

Torra R et al. Clinical outcomes with migalastat in patients with Fabry disease based on degree of renal impairment: results from phase 3 trials. Presented at the 55th ERA-EDTA Congress; May 24-27, 2018; Copenhagen, Denmark. Poster SP002.

Xu S et al. A Next-Generation Fabry Enzyme Replacement Therapy: A Proprietary Recombinant Human α-Galactosidase A Coformulated With a Pharmacological Chaperone, AT1001, Shows Greater Substrate Reduction Than Standard of Care in Fabry Mice. Presented at the 14th Annual WORLDSymposium™; February 5-9, 2018; San Diego, CA.

Germain DP et al. Cardiac Outcomes With Long-term Migalastat Treatment in Patients With Fabry Disease: Results From Phase 3 Trials. Presented at the 14th Annual WORLDSymposium™; February 5-9, 2018; San Diego, CA.

Haninger-Vacariu N et al. Pregnancy Outcome After Exposure to Migalastat: A Case Study. Presented at the 14th Annual WORLDSymposium™; February 5-9, 2018; San Diego, CA

Nicholls K et al. Renal Outcomes With Up to 9 Years of Migalastat in Patients With Fabry Disease: Results From an Open-label Extension Study. Presented at the 14th Annual WORLDSymposium™; February 5-9, 2018; San Diego, CA.

Feldt-Rasmussen U et al. Response of Patients With Fabry Disease With the Amenable GLA Mutation p.N215S to Treatment With Migalastat. Presented at the 13th International Congress of Inborn Errors of Metabolism; September 5-8, 2017; Rio de Janeiro, Brazil.

Schiffmann R et al. 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. Presented at the 13th International Congress of Inborn Errors of Metabolism; September 5-8, 2017; Rio de Janeiro, Brazil.

Lourenço C et al. Long-Term Migalastat Treatment Stabilizes Renal Function in Patients With Fabry Disease: Results From a Phase 3 Clinical Study (AT1001-041). Presented at the 13th International Congress of Inborn Errors of Metabolism; September 5-8, 2017; Rio de Janeiro, Brazil.

Jovanovic A et al. Efficacy and Safety of Migalastat, an Oral Pharmacological Chaperone for Fabry Disease: Renal Findings From Two Randomized Phase 3 Studies (FACETS and ATTRACT). Presented at the 13th International Congress of Inborn Errors of Metabolism; September 5-8, 2017; Rio de Janeiro, Brazil.

Xu S et al. 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. Presented at the 13th International Congress of Inborn Errors of Metabolism; September 5-8, 2017; Rio de Janeiro, Brazil.

Jovanovic A et al. Improvements in Cardiac Mass With Long-Term Migalastat Treatment in Patients With Fabry Disease: Results From Two Phase 3 Trials (FACETS and ATTRACT). Presented at the 13th International Congress of Inborn Errors of Metabolism; September 5-8, 2017; Rio de Janeiro, Brazil.

Schiffmann R et al. Migalastat Improves Gastrointestinal Signs and Symptoms in Patients With Fabry Disease: Patient-Level Responder Analyses From the Double-Blind, Placebo-Controlled Phase 3 Trial (FACETS). Presented at the 13th Annual WORLDSymposium™; February 13-17, 2017; San Diego, CA, USA.

Hughes DA et al. Response of Patents With Fabry Disease With the Amenable GLA Mutaton p.N215S to Treatment With Migalastat (ATTRACT Study). Presented at the 13th Annual WORLDSymposium™; February 13-17, 2017; San Diego, CA, USA.

Germain DP et al. 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. Presented at the 13th Annual WORLDSymposium™; February 13-17, 2017; San Diego, CA, USA.

Johnson FK et al. Migalastat Exposure in Japanese Healthy Volunteers and Non-Japanese Subjects Provides Evidence That These Populations Are Similar to Japanese Patients With Fabry Disease. Presented at the 13th Annual WORLDSymposium™; February 13-17, 2017; San Diego, CA, USA.

Feldt-Rasmussen U et al. Efficacy and Safety of Migalastat, an Oral Pharmacologic Chaperone for Fabry Disease: Results From Two Randomized Phase 3 Studies, FACETS and ATTRACT. Presented at the 13th Annual WORLDSymposium™; February 13-17, 2017; San Diego, CA, USA.

Germain DP et al. Efficacy of Migalastat in a Cohort of Male Patients With the Classic Fabry Phenotype in the FACETS Phase 3 Study. Presented at the 13th Annual WORLDSymposium™; February 13-17, 2017; San Diego, CA, USA.

Germain DP et al. Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat. N Engl J Med 2016; 375:545-555. DOI: 10.1056/NEJMoa1510198.

Najafian B et al. Six months of Migalastat Treatment Reduces Podocyte Globotriaosylceramide Content in Adult Male Patients with Fabry Disease. Presented at The World Symposium for Lysosomal Disorders Annual Meeting March, 2016 San Diego, CA.

Benjamin ER et al. The Validation of Pharmacogenetics in the Identification of Target Fabry Patients for Treatment with Migalastat. Presented at The World Symposium for Lysosomal Disorders Annual Meeting March, 2016 San Diego, CA.

Johnson FK et al. Comparison of Integrated White Blood Cell α-Galactosidase A Activity Exposure Between Every-Other-Day Orally Administered Migalastat and Biweekly Infusions of Agalsidase Beta or Agalsidase Alfa. Presented at The World Symposium for Lysosomal Disorders Annual Meeting March, 2016 San Diego, CA.

Germain DP et al. 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. Presented at The American Society of Human Genetics Meeting October 2015.

Schiffman R et al. Nine-year follow-up in a patient receiving migalastat pharmacological chaperone therapy for Fabry disease. Presented at The Society for the Study of Inborn Errors of Metabolism Annual Symposium September 2015.

Benjamin ER et al. The Utility of Pharmacogenetics in the Identification of Fabry Patients Eligible for Treatment with Migalastat. Presented at The Society for the Study of Inborn Errors of Metabolism Annual Symposium September 2015.

Nicholls K et al. Migalastat and Enzyme Replacement Therapy Have Comparable Effects on Renal Function in Fabry Disease: Phase 3 Study Results. Presented at The World Symposium for Lysosomal Disorders Annual Meeting March, 2015 San Diego, CA.

Schiffman R et al. Improvement in Gastrointestinal Symptoms Observed in the Phase 3 FACETS (AT1001-011) Study of Migalastat in Fabry Patients. Presented at The World Symposium for Lysosomal Disorders Annual Meeting March, 2015 San Diego, CA.

Bichet DG et al. Migalastat Reduces Left Ventricular Mass Index in Fabry Patients Naïve to ERT and Previously Treated With ERT. Presented at The World Symposium for Lysosomal Disorders Annual Meeting March, 2015 San Diego, CA.

Hamler R et al. Accurate Quantitation of Plasma Globotriaosylsphingosine (lyso-Gb3 ) in Healthy Individuals and Fabry Patients by Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS). Presented at The World Symposium for Lysosomal Disorders Annual Meeting March, 2015 San Diego, CA.

Nicholls K et al. Migalastat and Enzyme Replacement Therapy Have Comparable Effects on Renal Function in Fabry Disease: Phase 3 Study Results. American Society of Nephrology Kidney Week, 2014.

Bichet DG et al. Subjects with Fabry Disease Treated with Migalastat HCl Continue to Demonstrate Stable Renal Function in a Phase 3 Extension Study. 64th Annual Meeting of the American Society of Human Genetics, 2014.

Barlow C et al. Phase 3 Study (FACETS) of Migalastat HCl for Fabry Disease: Post hoc GLA Mutation-Based Identification of Subjects Likely to Show a Drug Effect. Presented at 10th Annual Lysosomal Disease Network WORLD Symposium (LDN WORLD). February 2014.

Bichet DG et al. 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. Presented at The World Symposium for Lysosomal Disorders Annual Meeting February, 2013 Orlando, FL.

Germain DP et al. Long-Term Safety of Migalastat HCl in Patients with Fabry Disease. Presented at The World Symposium for Lysosomal Disorders Annual Meeting February, 2013 Orlando, FL.

Warnock DG et al. 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. Presented at The World Symposium for Lysosomal Disorders Annual Meeting February, 2013 Orlando, FL.

Nicholls K et al. Migalastat HCl, an Investigational Pharmacological Chaperone Therapy: Screening Results from FACETS, a Phase 3 Study in Male and Female Fabry Patients. Society for the Study of Inborn Errors of Metabolism, September 2012