Children's National Health System's Urea Cycle Disorders Consortium, based in Wash. D.C., was awarded $6.25 million over the next five years from the NIH to perform clinical research and develop new treatments for patients with urea cycle disorders (UCD), which are rare but devastating genetic conditions.
Mark L. Batshaw, M.D., physician-in-chief and chief academic officer at Children's National, is the Principal Investigator for the program. Mendel Tuchman, M.D., chief research officer and scientific director of the Children's Research Institute, is the administrative director and co-Principal Investigator of the Urea Cycle Disorders Consortium. Marshall Summar, M.D., chief of genetics and metabolism at Children's National and Cynthia LeMons, president of the National Urea Disorders Foundation, are co-Principal Investigators.
"The Consortium has assisted in bringing three new drugs to market to treat these devastating disorders that primarily affect children, leading to brain injury and often death," said Batshaw.
There are several thousand rare diseases affecting 25 million Americans, but only a few hundred diseases have any treatments available. Tuchman indicated that "the creation and funding of the Urea Cycle Disorders Consortium has been the culmination of many years of clinical and research work by our group to improve the lives of children and adults with rare metabolic disorders."
With the new award, scientists at the consortia will test new therapies and continue to conduct a longitudinal natural history study of affected patients to better understand the course of the disorders. The consortium has more than 650 participants enrolled in studies, ten times more than any previous study conducted in this group of rare disorders, Batshaw said.
