Matthew Ellinwood, DMV, PhD, Chief Scientific Officer at the MPS Society USA, provides an overview of the mucopolysaccharidoses (MPSs) and mucolipidoses (MLs).
As Dr. Ellinwood explains, most MPSs are rare genetic conditions that are often difficult to diagnose before permanent damage has already occurred. Further, many MPSs have approved treatments (i.e., MPS I, MPS II, MPS IV, MPS VI, MPS VII) and as such, there is a need to make them part of newborn screening.
Although treatments are currently available, all of them are enzyme replacement therapies that cannot cross the blood brain barrier. Therefore, there is significant clinical research underway to provide methods to attenuate the cognitive and behaviour symptoms that afflict many of these rare diseases. These include novel methods to infuse enzyme replacement therapies as well as gene therapies that currently being investigated.