From our studies of disease mechanisms in lysosomal disorders we are identifying novel clinical interventions strategies for treating these disorders. We use small molecule drugs to target unique steps in the pathogenic cascade and test them as mono-therapies or in combination with other therapies. These are evaluated in a pre-clinical setting prior to translational studies in patients with our clinical collaborators. We are also analyzing peripheral blood cells and plasma from patients for potential biomarkers to monitor disease progression and as secondary endpoints in clinical trials.
