With a mean survival rate of 5 years, lysomal storage diseases (LSD) are among the most devastating. LSDs represent a large number of monogenetic diseases, such as hemophilia, Tay Sachs disease, sickle cell disease and cystic fibrosis.

The transformative results documented in an adeno-associated virus (AAV) gene therapy clinical trial in infants affected by spinal muscular atrophy demonstrated unequivocally, the potential of in vivo gene transfer to treat monogenic neurological disorder.

To date there is a lack of non-invasive ways to determine biodistribution or activity levels of these AAV therapies in patients. This is a significant hinderance, leaving investigators guessing which organs or structures are effectively treated and, due to the lag time associated with clinical disease progression, this limitation ultimately impacts the evolution of treatment modalities.

In order to overcome these limitations, Meade’s lab is developing a new class of bioresponsive magnetic resonance imaging probes to track enzymatic activity in any organ, peripheral nervous system, or central nervous system over time.