Year: 2008-09

Company: BioMarin Pharmaceuticals

Liaison(s): Tom Lester

BioMarin Pharmaceutical Inc. develops and commercializes innovative biopharmaceuticals for serious diseases and medical conditions, focusing on product candidates that address currently unmet medical needs. Currently commercialized products include several treatments for rare diseases, in particular Aldurazyme® for Mucopolysaccharidoses (MPS) I, Naglazyme® for MPS VI and Kuvan® for phenylketonuria (PKU). The goal of the BioMarin Pharmaceutical Team Masters Project (TMP) is to develop strategies that are knowledge-driven and accepted by Key Opinion Leader (KOL) to implement newborn screening for Mucopolysaccharidoses (MPS) worldwide. Mucopolysaccharidoses which result from genetic deficiencies of one or more lysosomal enzymes, are a group of disorders classified by the inability to fully digest certain complex carbo – hydrates called glycosaminoglycans (GAG). GAGs accumulate and disrupt the cell functions and give rise to the physical manifestations of the disease. Without intervention, the average life expectancy is 17 years. Patients often have respiratory and cardiac complications, short stature and bone deformities, and may have debilitating motor and cognitive functions. Establishing newborn screening will help facilitate the early identification of patients and early treatment intervention, which may increase life-quality among those diagnosed with these rare diseases. Our team has researched the various options available for assay design and commercialization, and has mapped the possible methods for expanding newborn screening panels in various priority countries. Our data was collected by attending relevant conferences, establishing discourse with appropriate KOLs and performing exhaustive literature searches. The feasibility and practicability of each strategy proposed were quantified in success matrices in terms of the resources required for full implementation. It is our mission to provide BioMarin with current and forward-looking information that will be valuable now and in the future. To ensure that these strategies remain viable post-TMP, a contact information database consisting of useful KOLs and organizations will be included in our deliverables in addition to a report and presentation delineating all of our references, thought-processes, and recommendations.