Liaison(s): Rajeev Mahimkar
BioMarin is a leader in developing innovative treatments for patients suffering from rare diseases across the globe. BioMarin has developed therapies in many fields, including Vimizim® for Morquio A Syndrome, Kuvan® for Phenylketonuria, Naglazyme® for mucopolysaccharidosis type VI, and Aldurazyme® for mucopolysaccharidosis type I. As an expanding firm, BioMarin is continually evaluating rare diseases with unmet medical needs. More recently, BioMarin has been exploring a novel therapeutic identification paradigm and whether any rare diseases can fit within that paradigm. In pursuit of this effort, BioMarin designed a KGI TMP project with goals to identify and obtain in-depth analysis of these rare diseases. The BioMarin Rare Disease TMP team was tasked with searching through all known rare diseases to determine which would fit within the new therapeutic paradigm. This was accomplished through utilization of Orphanet’s comprehensive epidemiology rare disease database, which contained over 16,000 diseases. This database was constrained using five confidential factors provided by BioMarin, ultimately resulting in a list of 40 diseases. In the second half of the project BioMarin selected 9 diseases spanninga range of neurological, muscle, and bone disorders to investigate further. Secondary research for these 9 diseases was conducted by the TMP team, and was supplemented by interviews with key opinion leaders of the respective disorders. These findings were organized into 7 comprehensive reports and included key criteria such as biochemical description of gene mutation, epidemiology, market opportunity, and more. Completion of this TMP project has achieved the goals set forth by BioMarin, providing them with a set of disorders that fit within their criteria for their new therapeutic paradigm.