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Home >> Science & Technology >> 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


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.


What's Missing in Lysosomal Storage Diseases?
(pdf - 1.6MB)



About Pharmacological Chaperones
(pdf - 640KB)




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