Therapy for inherited enzyme deficiencies
Gaucher disease stems from deficiency of the enzyme glucocerebrosidase, leading to accumulated lipids that cause symptoms ranging from mild pigmentation to life-threatening seizures and brain damage. Although the concept of enzyme replacement had been proposed many years ago, a targeted approach is needed to ensure delivery of the enzyme to the correct cell type.
IRP researchers led by Roscoe Brady, M.D., developed a macrophage-targeted glucocerebrosidase, designed to deliver the missing enzyme directly into the macrophages of patients with Gaucher disease. The team conducted the first clinical trial with the new therapy and observed a reversal of all symptoms in all patients.
Doctors have now established intravenous administration of macrophage-targeted glucocerebrosidase as an effective treatment for the symptoms of Type 1 and Type 3 Gaucher disease . For his research, Dr. Brady was awarded the National Medal of Technology and Innovation in 2008, the highest honor for achievement in science and technology bestowed by the U.S. President .
Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, et al. (1991). Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher’s disease. N Engl J Med. 324(21), 1464-70.