This presentation will discuss lactic acidosis and focus on pyruvate dehydrogenase as a case study to explore how compassionate use and clinical trials can be used in patients with mitochondrial disease. We will discuss the importance of family engagement for understanding natural history and disease prevalence in order to ultimately result in successful therapy development.
Rebecca Ganetzky, MD is an assistant professor of Pediatrics at the Perelman School of Medicine at the University of Pennsylvania and an attending physician in the division of Human Genetics at the Children’s Hospital of Philadelphia, working in the mitochondrial medicine frontier program and the section of biochemical genetics. Her research focuses on mitochondrial complex V deficiency and the development of clinical biochemical assays to improve the diagnosis of mitochondrial disease. Dr. Ganetzky received her undergraduate degree in Biology & Computer Science from Oberlin College, her medical degree from the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University. She completed a combined residency in Pediatrics and Clinical Genetics and a subsequent fellowship in Clinical Biochemical Genetics at the Children's Hospital of Philadelphia.