Our gastroenterology research group is focused on translational clinical research on the treatment of lysosomal storage diseases focused primarily on the mucopolysaccharidoses.
The mucopolysaccharidoses (MPS) are a group of 11 rare genetic disorders in the lysosomal storage disease (LSD) family, each caused by the absence or reduced function of lysosomal enzymes needed to break down glycosaminoglycans (GAGs). GAGs are long chains of carbohydrate constituents of bone, cartilage, and connective tissue. In the absence of lysosomal enzyme function, these GAGs collect in the cells and connective tissues and result in progressive cellular damage and organ system dysfunction. The mucopolysaccharidoses share many clinical features but have varying degrees of severity. Treating these patients has depended on medical and surgical care, with hematopoietic stem cell transplantation as the only cure.
Since 2003, enzyme replacement therapy (ERT) has been approved for MPS I (AldurazymeŽ, Genzyme/BioMarin), II (Elaprase, Shire) and VI (NaglazymeŽ, BioMarin) to provide specific therapy administered intravenously. Dr. Harmatz participated in the clinical trials for MPS II and VI that led to FDA approval. At present, Dr. Harmatz is leading one of only two US sites participating in a longitudinal, multicenter, multinational natural history study for MPS IVA or Morquio A. He is also PI of one the US sites for the phase 3, randomized, placebo controlled trial of enzyme replacement therapy and is presently enrolling patients for this study.
In addition to these trials, Dr. Harmatz and his colleagues have been participating in the NIH-sponsored Lysosomal Disease Network studies and have been enrolling patients into a longitudinal study of brain disease in MPS I and II. The research group will also be participating as one of the sites evaluating spinal fluid enzyme therapy to prevent or treat MPSrelated brain disease. These studies require close collaboration with radiology (Kenneth Martin, MD) and neurosurgery (Peter Sun, MD). In addition, the Harmatz group is also focused on iron overload in hemoglobinopathies. Together with CHORI Senior Scientist Elliott Vichinksy, MD, and the Department of Hematology, Dr. Harmatz and his colleagues are evaluating mechanisms of iron trafficking and development of monitoring and treatment strategies.
Revised: Friday, August 3, 2012 3:51 PM