Science & Technology

Posters, Abstracts, and Publications

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

Treatment of Fabry Disease with the Pharmacologic Chaperone Migalastat

Society for Pediatric Dermatology Annual Meeting – July 2016

Twelve-month efficacy and safety findings of SD-101 cream from an open-label extension study on reducing body surface area coverage of lesional skin in patients with epidermolysis Bullosa
Efficacy and Safety Results From a Phase 2b Dose-ranging Study of SD-101 cream in Patients With Epidermolysis Bullosa

American Academy of Dermatology Annual Meeting – March 2016

Efficacy and Safety of SD-101 Cream in Patients with Epidermolysis Bullosa: Results from a Phase 2b Study

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

American College of Medical Genetics Annual Clinical Genetics Meeting (ACMG) – March 2015

Novel rhGAA with Optimal Glycosylation Is Significantly Better than Alglucosidase Alfa for Glycogen Clearance in Skeletal Muscles of Gaa KO Mice
Migalastat Reduces Plasma Globotriaosylsphingosine (Lyso-Gb3) in Fabry Patients: Results from Phase 3 Clinical Studies

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

Journal Articles

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 Germain D.P., et al., 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 Giugliani R, et al., 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 Young-Gqamana B, et al., PLoS ONE 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 Barisoni L, et al., 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 Johnson F, et al., Clinical Pharm in Drug Dev. (2013), doi:10.1002/cpdd.1.
Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice Benjamin E, et al., Molecular Therapy: 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 Khanna R, et al., PLoS ONE (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 Wu X, et al., Human Mutation: July 2011, Vol. 32, No. 8, pp. 965–977.
Fabry Disease: Polymorphic Haplotypes and a Novel Missense Mutation in the GLA gene Ferri L, et al., Clin Genet 2011 Apr 25. j.1399-0004.01689.x.
Sex Differences of Urinary and Kidney Globotriaosylceramide and Lyso-Globotriaosylceramide in Fabry Mice Durant B, et al., 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 Khanna R, et al., Molecular Therapy: 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 Flanagan J, et al., Human Mutation: December 2009, Vol. 30, No. 12, pp.1683-92.
Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases Boyd R, et al., J. Med. Chem. (2013), DOI: 10.1021/jm301557k
Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders Valenzano, K, et al., Assay Drug Dev Technol. 2011 Jun;9(3):213-35.
New Pathway Links γ-Secretase to Inflammation and Memory While Sparing Notch Gandy S, et al., Ann Neurol. 2011 Jan;69(1):5-7.
The Pharmacological Chaperone Isofagomine Increases the Activity of the Gaucher Disease L444P Mutant Form of β-Glucosidase Khanna R, et al., FEBS J, April 2010; 277(7): 1618–1638.
Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-β Peptide Keilani, et al., The Journal of Neuroscience, April 11, 2012 32(15):5223–5236.