Programs & Pipeline
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.
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 Storage 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.