Featured Journal Articles | Amicus Therapeutics

Journal Articles

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

Fabry Disease

Mauer M, Sokolovskiy A, Barth JA., et al. Reduction of Podocyte Globotriaosylceramide Content in Adult Male Fabry Patients with Amenable GLA Mutation Following 6 Months of Migalastat Treatment. J Med Genet Published Online First: [29 July 2017]. doi:10.1136/jmedgenet-2017-104826

Benjamin ER et al. The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat. Genetics in Medicine: advance online publication 22 September 2016. doi:10.1038/gim.2016.122

Germain D.P., et al. Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat. The New England Journal of Medicine: 2016, 375:545-555, doi: 10.1056/NEJMoa1510198

Germain D.P., et al. 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

Giugliani R, et al. 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.

Young-Gqamana B, et al. Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients. PLoS ONE 8(3): e57631. doi:10.1371/journal.pone.0057631

Barisoni L, et al. 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.

Johnson F, et al. Pharmacokinetics and Safety of Migalastat HCl and Effects on Agalsidase Activity in Healthy Volunteers. Clinical Pharm in Drug Dev. (2013), doi:10.1002/cpdd.1.

Benjamin E, et al. Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice. Molecular Therapy: April 2012, Vol. 20, No. 4, pp. 717–726.

Wu X, et al. A Pharmacogenetic Approach to Identify Mutant Forms of a-Galactosidase A that Respond to a Pharmacological Chaperone for Fabry Disease. Human Mutation: July 2011, Vol. 32, No. 8, pp. 965–977.

Ferri L, et al. Fabry Disease: Polymorphic Haplotypes and a Novel Missense Mutation in the GLA gene. Clin Genet 2011 Apr 25. j.1399-0004.01689.x.

Durant B, et al. Sex Differences of Urinary and Kidney Globotriaosylceramide and Lyso-Globotriaosylceramide in Fabry Mice. J Lipid Res. 2011 Sep; 52(9):1742-6.

Khanna R, et al. The Pharmacological Chaperone 1-Deoxygalactonojirimycin Reduces Tissue Globotriaosylceramide Levels in a Mouse Model of Fabry Disease. Molecular Therapy: 2010 Jan; 18(1):23-33. doi: 10.1038/mt.2009.220.

 

Pompe Disease

Khanna R, et al. The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease. PLoS ONE (2012) 7(7): e40776. doi:10.1371/journal.pone.0040776.

Flanagan J, et al. The Pharmacological Chaperone 1-Deoxynojirimycin Increases the Activity and Lysosomal Trafficking of Multiple Mutant Forms of Acid Alpha-Glucosidase. Human Mutation: December 2009, Vol. 30, No. 12, pp.1683-92.

 

Lysosomal Diseases & Other Diseases

Boyd R, et al. Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases. J. Med. Chem. (2013), DOI: 10.1021/jm301557k

Valenzano, K, et al. Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders. Assay Drug Dev Technol. 2011 Jun;9(3):213-35.

Gandy S, et al. New Pathway Links γ-Secretase to Inflammation and Memory While Sparing Notch. Ann Neurol. 2011 Jan;69(1):5-7.

Khanna R, et al. The Pharmacological Chaperone Isofagomine Increases the Activity of the Gaucher Disease L444P Mutant Form of β-Glucosidase. FEBS J, April 2010; 277(7): 1618–1638.

Keilani, et al. 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.