BioMarin Pharmaceuticals has recently announced positive results from the Phase III trial (MOR-004) of its enzyme replacement therapy (ERT) BMN-100 — recombinant human N-acetylgalactosamine-6-sulphatase (GALNS) — for the treatment of mucopolysaccharidosis type IVA (MPS-IVA; also known as Morquio A syndrome). The study met both its primary and secondary end points, and the company plans to apply for marketing authorization in the first quarter of 2013.

The mucopolysaccharidoses are a group of rare inherited lysosomal storage disorders (LSDs) caused by a deficiency in or absence of specific lysosomal enzymes, resulting in the accumulation of complex carbohydrates within the body. In MPS-IVA there is a deficiency in galactosamine-6-sulphatase, an enzyme that is responsible for degradation of the keratan sulphate that is normally found in the bone, cartilage and cornea. MPS-IVA is characterized by skeletal dysplasia, short stature and motor dysfunction, and is often associated with neurological and vision problems, restricted breathing, joint stiffness and heart disease.

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