Baumgartner

Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Stoffwechsel und Molekulare Pädiatrie, Abteilung für » Prof. Dr. Matthias R. Baumgartner » Baumgartner

Current research project

Title / Titel	LONGITUDINAL STUDY OF UREA CYCLE DISORDERS
PDF	Abstract (PDF, 14 KB)
Summary / Zusammenfassung	The objective of this international multicenter study is to conduct a longitudinal multidisciplinary investigation of the natural history, morbidity, and mortality in people with urea cycle disorders. Urea cycle disorders are a group of rare inborn errors of metabolism that commonly present in childhood with episodes of vomiting, lethargy and coma. Symptoms are the result of an accumulation of ammonia, a toxic product of protein degradation , which is not adequately metabolized in the liver of affected individuals due to an enzyme defeciency present from birth.The risk of death or severe disability from these disorders approaches 50% and current therapy is considered inadequate. The purpose of this study is to perform a long-term follow-up of a large group of patients with the various urea cycle disorders, including assessment of growth, cognitive function and biochemical status over time. Survival and cognitive outcome of current treatment forms will be evaluated and identification of biochemical changes (biomarkers) that may predict future metabolic imbalances will be sought so that they can be corrected before clinical symptoms develop. The overall goal of the study is to improve treatment and outcome of this devastating group of disorders. The study is carried out within the framework of the Urea Cycle Disorders Consortium (UCDC), which is part of the Rare Diseases Clinical Research Network (RDCRN) established by the National Institutes of Health (NIH) in the USA.
Publications / Publikationen	Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab; 100 Suppl 1:S97-105, 2010
Keywords / Suchbegriffe	urea cycle disorders, natural history, ornithine transcarbamylase, carbamoylphosphate synthase, N-acetylglutamate synthase, argininosuccinate synthase, argininosuccinate lyase, arginase, ORNT1
Project leadership and contacts / Projektleitung und Kontakte	Prof. Matthias Baumgartner, MD (Project Leader) matthias.baumgartner@kispi.uzh.ch Dr. Tamar Stricker, MD tamar.stricker@kispi.uzh.ch
Funding source(s) / Unterstützt durch	Foundation, Others The study is carried out within the framework of the Urea Cycle Disorders Consortium (UCDC), which is part of the Rare Diseases Clinical Research Network (RDCRN) established by the National Institutes of Health (NIH) in the USA.O’Malley Foundation
In collaboration with / In Zusammenarbeit mit	The international study chairs: Mark Batshaw, MD and Mendel Tuchman, MD and the participating academic insitutions: Children’s National Medical Center (CNMC), Washington, DC Children's Hospital of Philadelphia (CHOP) Baylor Medical Center, Houston, Texas Vanderbilt University Medical Center, Nashville, Tennessee University of California Los Angeles (UCLA) Mt. Sinai School of Medicine, New York, New York Rainbow Babies and Children’s Hospital, Cleveland, Ohio Yale/New Haven Hospital, New Haven, Connecticut University Children’s Hospital, Zurich, Switzerland The Hospital for Sick Children, Toronto, Canada, Seattle Children’s Hospital, Seattle, Washington, Oregon Health and Science University, Portland, Oregon, The Children’s Hospital, Aurora, Colorado, Children’s Hospital, Boston, Massachusetts University Children’s Hospital Heidelberg, Germany
Duration of Project / Projektdauer	Jan 2008 to Dec 2014