Propionic Acidemia Overview
Learn About Propionic Acidemia
- Propionic acidemia
- Glycinemia, ketotic
- Hyperglycinemia with ketoacidosis and leukopenia
- Ketotic glycinemia
- Ketotic hyperglycinemia
- PCC deficiency
- PROP
- Propionicacidemia
- Propionyl-CoA carboxylase deficiency
Charles Venditti is a Medical Genetics provider in Bethesda, Maryland. Dr. Venditti is rated as an Elite provider by MediFind in the treatment of Propionic Acidemia. His top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Homocystinuria, and Niemann-Pick Disease.
Oleg Shchelochkov is a Medical Genetics specialist and a Pediatrics provider in Iowa City, Iowa. Dr. Shchelochkov is rated as an Elite provider by MediFind in the treatment of Propionic Acidemia. His top areas of expertise are Propionic Acidemia, Argininosuccinic Aciduria, Methylmalonic Acidemia, and Urea Cycle Disorders (UCD).
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Dr. Hilary Vernon is a Professor of Genetic Medicine and pediatrics at the Johns Hopkins University School of Medicine. She is also an attending physician at Kennedy Krieger Institute. Hilary Vernon has expertise in treating inborn errors of metabolism and mitochondrial disorders. She is the director of the Mitochondrial Care Center at The Johns Hopkins Hospital and the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute. Her research interests include understanding intermediary metabolism in Barth syndrome and in disorders of branch chain amino acid metabolism. Dr. Vernon also co-directs the Department of Genetic Medicine Clinical Trials Unit, and is the principal investigator on multiple clinical trials for rare diseases. Dr. Vernon received her medical degree and doctorate from Rutgers University, New Brunswick, New Jersey. She completed residencies in genetics and pediatrics at The Johns Hopkins University, and a fellowship in clinical laboratory biochemical genetics at The Johns Hopkins University. Dr. Vernon was recognized with the 2010 Francis F. Schwentker Award for Excellence in Research at Johns Hopkins University and the 2011 James B. Sidbury Jr. Fellowship in Biochemical Genetics at Johns Hopkins University. Dr. Vernon is rated as a Distinguished provider by MediFind in the treatment of Propionic Acidemia. Her top areas of expertise are Methylmalonic Acidemia, Propionic Acidemia, Infantile Neutropenia, Progressive External Ophthalmoplegia, and Gastrostomy.
Summary: This is a non-interventional, observational, global, multicenter, study describing participant characteristics, clinical outcomes, and event rates in participants with propionic acidemia (PA).
Summary: This 3-part, Phase 1/2 study is designed to characterize the safety, tolerability, and pharmacological activity (as assessed by biomarker measurements) and to determine the selected dose of mRNA-3927 in participants with genetically confirmed propionic acidemia (PA). After establishing a dose with an acceptable safety and pharmacodynamic (PD) response for participants ≥1 year of age in Part 1, par...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center
