BioMarin Pharmaceutical Inc. (NASDAQ:BMRN) Biomarin BioMarin Pharmaceutical Inc.: NASDAQ:BMRN quotes & news - Google Finance The company's product portfolio comprises four approved products and multiple clinical and pre-clinical product candidates. Approved products include Naglazyme® (galsulfase) for mucopolysaccharidosis VI (MPS VI), a product wholly developed and commercialized by BioMarin; Aldurazyme® (laronidase) for mucopolysaccharidosis I (MPS I), a product which BioMarin developed through a 50/50 joint venture with Genzyme Corporation; KUVAN®(sapropterin dihydrochloride) Tablets, for phenylketonuria (PKU), developed in partnership with Merck Serono, a division of Merck KGaA of Darmstadt, Germany; and Firdapse™ (amifampridine phosphate), which has been approved by the European Commission for the treatment of Lambert Eaton Myasthenic Syndrome (LEMS). Product candidates include GALNS (N-acetylgalactosamine 6-sulfatase), which is currently in Phase III clinical development for the treatment of MPS IVA, PEG-PAL (PEGylated recombinant phenylalanine ammonia lyase), which is currently in Phase II clinical development for the treatment of PKU, BMN-701, a novel fusion protein of insulin-like growth factor 2 and acid alpha glucosidase (IGF2-GAA), which is currently in Phase I/II clinical development for the treatment of Pompe disease, and BMN-673, a poly ADP-ribose polymerase (PARP) inhibitor, which is currently in Phase I/II clinical development for the treatment of genetically-defined cancers and BMN-111, a modified C-natriuretic peptide, which is currently in Phase I clinical development for the treatment of achondroplasia. Drug trial gives hope to Pompe sufferer Pompe Sufferer Gets Hope From Drug Trial | Stuff.co.nz Maga JA, Zhou J, Kambampati R, et al. Glycosylation-independent lysosomal targeting of acid ?-glucosidase enhances muscle glycogen clearance in Pompe mice. Journal of Biological Chemistry. Glycosylation-independent lysosomal targeting of acid ?-glucosidase enhances muscle glycogen clearance in Pompe mice We have used a peptide-based targeting system to improve lysosomal delivery of acid ?-glucosidase (GAA), the enzyme deficient in patients with Pompe disease. Human GAA was fused to the Glycosylation-Independent Lysosomal Targeting (GILT) tag, which contains a portion of insulin-like growth factor II (IGF-II), to create an active, chimeric enzyme with high affinity for the cation-independent mannose 6-phosphate receptor (CI-MPR). GILT-tagged GAA was taken up by L6 myoblasts about 25-fold more efficiently than was recombinant human GAA (rhGAA). Once delivered to the lysosome, the mature form of GILT-tagged GAA was indistinguishable from rhGAA and persisted with a half-life indistinguishable from rhGAA. GILT-tagged GAA was significantly more effective than rhGAA in clearing glycogen from numerous skeletal muscle tissues in the Pompe mouse model. The GILT-tagged GAA enzyme may provide an improved enzyme replacement therapy for Pompe disease patients. Capsule Background: Acid-?-glucosidase, an enzyme replacement therapy for Pompe disease, is poorly targeted to lysosomes when relying on phosphomannose residues. Results: Fusing IGF-II to acid-?-glucosidase resulted in more efficient uptake and glycogen clearance from muscle of Pompe mice. Conclusion: Enhanced binding to the CI-MPR enabled improved glycogen clearance in Pompe mice. Significance: BMN 701 is now being tested for Pompe disease in human clinical studies.