The lysosomal storage disorders (LSDs) are a group of approximately 60 conditions that have unique causes, characteristics, treatment approaches, and research opportunities. At UPMC Children's Hospital of Pittsburgh and in collaboration with the University of Pittsburgh, we have had a long history of research and clinical care of families impacted by these conditions. They all fall under the umbrella of LSDs because one of the many enzymes involved in the lysosome is decreased or absent and therefore not performing its job correctly in the body.
Gaucher Disease was the original LSD that had an effective treatment developed and this has led to significant contributions to other lysosomal storage conditions. Treatment options, either clinical or research, are focused on correcting that enzyme deficiency by a variety of approaches: enzyme replacement therapy, chaperone therapy, substrate synthesis inhibition, stem cell transplant, and gene therapy. We have a large patient-based practice and collaborate with LSD centers nationally and internationally to determine the best strategy and outcome for families impacted by these conditions.
Our current and historical patient population includes individuals diagnosed with Gaucher disease, Fabry disease, Mucopolysaccharidoses (Type I, II, III, IV, and VI), Pompe disease (late-onset in children and infantile-onset), Niemann-Pick, Tay-Sachs, Krabbe, and Lysosomal Acid Lipase deficiency. We strive to bring all available FDA-approved treatments and research options to our families through our own research or collaboration with other care teams – locally, nationally, or internationally.
Principal Investigator
Damara Ortiz, MD