Dr. Moscicki on His Experience With Lysosomal Diseases

Richard Moscicki, MD, Senior Vice President, Clinical Development and Medical Affairs; Chief Medical Officer, Genzyme Corporation, joined Genzyme 19 years ago as their medical director, before that he worked as a staff physicians at Massachusetts General Hospital in the clinical immunology division.

Moscicki witnessed many of the major changes that took place in the field of lysosomal storage disease and enzyme replacement therapy. 20 years ago the first enzyme treatment was approved to treat Gaucher disease. In the beginning of lysosomal disease enzyme treatments there was a great deal of uncertainty regarding their efficacy but this concern has since been dispelled and a huge impact can be observed in the patients.

The most observable effect of lysosomal treatments is that it has become less common to see a patient with Gaucher disease in a wheelchair. There has been a transformation in the patients with this rare disease; they are now healthy and strong individuals.

Genzyme has created new lysomal therapies for Fabry disease, mucopolysaccharidosis, and Pompe disease based on their success in Gaucher disease. As these new treatments are made available the patients have evolved in a similar fashion to those with Gaucher. The creation of these new medications has given hope to patients with rare genetic diseases who are still waiting for a treatment option.