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SAN RAFAEL, Calif., Jan. 14, 2014 (GLOBE NEWSWIRE) -- BioMarin Pharmaceutical Inc. (Nasdaq:BMRN) announced today that it has dosed the first child in the Phase 2 trial with BMN 111, an analog of C-type Natriuretic Peptide (CNP), for the treatment of children with achondroplasia. Achondroplasia is the most common form of disproportionate short stature or dwarfism.
"BMN 111 is representative of BioMarin's core competency of developing life-altering therapies that address unmet medical needs," stated Hank Fuchs, M.D., Chief Medical Officer of BioMarin. "In this Phase 2 study, we hope to see improvements in bone growth similar to what was observed in our preclinical models, and resulting improvements in the medical complications of achondroplasia that occur as a result of disproportionate bone growth. We believe treatment with BMN 111 for achondroplastic children will be well-tolerated and could potentially address the underlying cause of this condition and lead to benefits in the lives of these patients."
The Phase 2 study is an open-label, sequential cohort, dose-escalation study of BMN 111 in children who are 5-14 years old. The primary objective of this study is to assess the safety and tolerability of daily subcutaneous doses of BMN 111 administered for 6 months. The secondary objectives will include an evaluation of change in annualized growth velocity, changes in absolute growth parameters, changes in body proportions and other medically relevant and functional aspects of achondroplasia, such as sleep apnea and joint range of motion. Prior to enrolling in the Phase 2 study, all patients will have participated in a 6 month natural history study to determine baseline growth velocity data. This is an international study that will enroll approximately 24 subjects for a treatment duration of 6 months.
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, all of which are related to the disproportionate growth which is characteristic of the condition.