Achondroplasia is the most common form of human dwarfism and is characterized by failure of normal conversion of cartilage into bone. It is caused by an autosomal dominant activating mutation in the fibroblast growth factor receptor 3 (FGFR3) gene, a negative regulator of bone growth. Eighty percent of cases are the result of a spontaneous mutation, and ninety-eight percent of those cases have a G380R mutation. Clinical manifestations of the disease include short stature, cervico-medullary compression, sleep apnea, bowed legs, frontal bossing and mid-face hypoplasia, permanent sway of the lower back, spinal stenosis, recurrent ear infections and obesity.
The rate of incidence of achondroplasia is one in 15,000 to one in 40,000 live births, with approximately 18,000 to 24,000 patients in the U.S. and Europe combined.
BioMarin develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions. 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), 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, amifampridine phosphate (3,4-diaminopyridine phosphate), which is currently in Phase III clinical development for the treatment of LEMS in the U.S., 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, 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-nutriuretic peptide, which is currently in Phase I clinical development for the treatment of achondroplasia. For additional information, please visit
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This press release contains forward-looking statements about the business prospects of BioMarin Pharmaceutical Inc., including, without limitation, statements about: the development of BioMarin's BMN-111 program generally and the timing and design of the planed Phase 2 trial of BMN-111. These forward-looking statements are predictions and involve risks and uncertainties such that actual results may differ materially from these statements. These risks and uncertainties include, among others: results and timing of current and planned clinical trials of BMN-111; the content and timing of decisions by the U.S. Food and Drug Administration, the European Commission and other regulatory authorities; BioMarin's ability to secure clinical trial sites to perform the Phase 2 trial and the ability to enroll patients into those trials; and those factors detailed in BioMarin's filings with the Securities and Exchange Commission, including, without limitation, the factors contained under the caption "Risk Factors" in BioMarin's Quarterly Report on Form 10-Q for the Quarter ended June 30, 2012. Stockholders are urged not to place undue reliance on forward-looking statements, which speak only as of the date hereof. BioMarin is under no obligation, and expressly disclaims any obligation to update or alter any forward-looking statement, whether as a result of new information, future events or otherwise.