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Nitric Oxide Flux and Ureagenesis in Argininosuccinate Synthetase Deficiency (ASSD)(Citrullinemia I)

NCT01610089 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 6

Last updated 2015-03-20

No results posted yet for this study

Summary

The urea cycle consists of a series of chemical reactions through which the body converts toxic waste- nitrogen into a substance called urea that can be disposed of easily. While disposal of nitrogen is the major function of the urea cycle, recent research has shown that some enzymes of the urea cycle are also important for the production of nitric oxide. Nitric oxide is an important chemical that has many functions in the human body including regulation of blood pressure. Through this study, the investigators will study the production of nitric oxide in subjects with citrullinemia type 1 by administering stable isotopes to these subjects. Stable isotopes are harmless compounds that can be used to track and measure the production of specific compounds in the human body. The overall goal of this study is to understand if citrullinemia patients have a deficiency of nitric oxide production. This knowledge may have an impact on the treatment of patients with citrullinemia.

Conditions

  • Citrullinemia

Interventions

OTHER

stable isotope infusion

Control subjects: \[15N2-ureido\] arginine (0.69 mg/kg); \[5-13C,4,4,5,5-D4\] citrulline (0.18mg/kg); 15N citrulline (0.03mg/kg); 15N sodium nitrate (0.003 mg/kg), \[15N\]\[18O3\] potassium nitrate (0.03 mg/kg) and \[18O\]\[13C\]urea (1 mg/kg)over 10 minutes. Followed by a 8-hour infusion of \[15N2-ureido\] arginine (0.69 mg/kg/hr); \[5-13C,4,4,5,5-D4\] citrulline (0.18mg/kg/hr), \[15N\]\[18O3\] potassium nitrate (0.003 mg/kg/hr) and \[18O\]\[13C\]urea (0.1 mg/kg/hr). Citrullinemia type 1 subjects,\[15N2-ureido\] arginine (4.14 mg/kg); \[5-13C,4,4,5,5-D4\] citrulline (1.08 mg/kg); 15N citrulline (0.18mg/kg); 15N sodium nitrate (0.003 mg/kg), \[15N\]\[18O3\] potassium nitrate (0.03 mg/kg) and \[18O\]\[13C\]urea (1 mg/kg)over 10 minutes, followed by a 8-hour infusion of \[15N2-ureido\] arginine (4.14 mg/kg/hr); \[5-13C,4,4,5,5-D4\] citrulline (1.08 mg/kg/hr), \[15N\]\[18O3\] potassium nitrate (0.003 mg/kg/hr) and \[18O\]\[13C\]urea (0.1 mg/kg/hr).

Sponsors & Collaborators

  • Baylor College of Medicine

    lead OTHER

Principal Investigators

  • Brendan Lee, MD, PhD · Baylor College of Medicine

Study Design

Allocation
NA
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2012-12-31
Primary Completion
2013-09-30
Completion
2013-09-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01610089 on ClinicalTrials.gov