New Study to Develop Newborn Screen for OTC Deficiency

Update July 2015:  Study Fully Recruited, Closed

OTC Deficiency families and patients are invited to participate in a critically important research study to help develop a screen to identify babies affected with OTC deficiency at birth.  OTC is currently not screenable at birth by the mandated state newborn screening programs.  Developing a newborn screen for OTC has been a major goal of the National Urea Cycle Disorders Foundation as a way to save the lives of babies affected with OTC.  Early identification and treatment can save lives and help minimize developmental delays and neurological damage from the disorder.

The purpose of this research study is to measure the amount of orotic acid in newborn screening specimens. Patients with the urea cycle disorder, ornithine transcarbamylase (OTC) deficiency, typically have increased orotic acid levels in their blood and urine. However, it is unclear whether orotic acid levels are increased in blood specimens obtained within a few days of birth. The study will help determine whether orotic acid levels are elevated in the newborn screening samples of individuals with OTC deficiency. If orotic acid levels are found to be increased, this test may be used as a way to screen newborns at birth for OTC deficiency.

You are invited to take part in this research study and eligible to participate if:

1.  You have been diagnosed with ornithine transcarbamylase (OTC) deficiency, OR
2.  Your child has been diagnosed with OTC deficiency, OR
3.  You have been identified as a carrier for OTC deficiency.

If you are eligible to participate, you will be asked to give consent to release a portion of the newborn screening specimen that was collected and stored by the state newborn screening program when you or your child were only a few days old, to the research study investigator, Dr. Patrice Held, at the Wisconsin State Laboratory of Hygiene. The research study will measure the amount of orotic acid present in the specimen. If orotic acid is found to be increased in samples obtained from you and other the study participants, researchers may be able to use orotic acid as a screen for identifying newborns with OTC deficiency and carriers for the disorder. Early identification of newborns with OTC deficiency makes it possible for doctors to start treatment early and help minimize the negative effects of the disease.

Approximately 50 individuals will participate in this study. The research study is IRB-approved (Institutional Review Board) by the University of Wisconsin, Madison. 

     Principal Investigator: Patrice Held, Ph.D., Co-Director, Newborn Screening Laboratory, State of Wisconsin
     Co-Investigator/Study Enrollment Coordinator: Cynthia Le Mons, Director, National Urea Cycle Disorders Foundation

For more information or to receive a study participant packet, please contact the study coordinator:

     Cynthia Le Mons, Study Coordinator
     Email:  This e-mail address is being protected from spambots. You need JavaScript enabled to view it
     Phone:  (626)578-0833