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Find A Study

How do I learn more about current open studies?

Below you will find a list of current studies. Clicking on the link will take you to the study summary, which will provide you with all the important details for each study

How do I participate in a study?

Each study summary provides a list of hospitals or clinics where the study is being run. Using the contact information provided, you may contact any of these facilities in order to request participation in a study.

Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.

For All Urea Cycle Disorders:

• 5101: Longitudinal Study of Urea Cycle Disorders
  • The Impact of Newborn Screening Upon Children with Urea Cycle Disorders

For Specific Disorders:

Ornithine Transcarbamylase (OTC) Deficiency

• 5104: Assessing Neural Mechanisms of injury in inborn errors of urea metabolism using Structural MRI, Functional MRI, and Magnetic Resonance Spectroscopy
• 5107: Investigation of Brain Nitrogen Metabolism in Partial Ornithine Transcarbamylase Deficiency (OTCD) Using 1H MRS, DTI, and fMRI

Argininosuccinate Lyase Deficiency (Argininosuccinic Aciduria)

• 5102: A Randomized, Double-Blind, Crossover Study of Sodium Phenylbutyrate (BuphenylT) and Low-Dose Arginine (100 mg/kg/day) Compared to High-Dose Arginine (500mg/kg/day) Alone on Liver Function, Ureagenesis and Subsequent Nitric Oxide Production in Patients with Argininosuccinic Aciduria (ASA) )

This list was last updated on 30 Nov 2010

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The Urea Cycle Disorders Consortium (UCDC) is a part of NIH Rare Diseases Clinical Research Network (RDCRN). Funding and/or programmatic support for this project has been provided by the National Institute of Child Health and Human Development (NICHD) and the NIH Office of Rare Diseases Research (ORDR). Read Disclaimer >