NCT01541722

Brief Summary

The primary purpose of the proposed study is to characterize the oxidative stress and inflammatory cytokine status in UCD during baseline and decompensated states.

Trial Health

60
Monitor

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
10

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Feb 2012

Typical duration for all trials

Geographic Reach
2 countries

11 active sites

Status
terminated

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

February 1, 2012

Completed
7 days until next milestone

First Submitted

Initial submission to the registry

February 8, 2012

Completed
22 days until next milestone

First Posted

Study publicly available on registry

March 1, 2012

Completed
2.8 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2015

Completed
6 months until next milestone

Study Completion

Last participant's last visit for all outcomes

July 1, 2015

Completed
Last Updated

October 2, 2015

Status Verified

October 1, 2015

Enrollment Period

2.9 years

First QC Date

February 8, 2012

Last Update Submit

October 1, 2015

Conditions

Keywords

Urea cycle disorders

Outcome Measures

Primary Outcomes (1)

  • Laboratory values indicating oxidative stress

    Laboratory values that indicate oxidative stress include IL-1, IL-2, IL-6, and IL-8. These values will be analyzed as a panel (not individually) comparing baseline values to values during periods of decompensation.

    Change from baseline to period of decompensation up to one year

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Urea cycle disorders Inherited metabolic disorders N-acetylglutamate synthase (NAGS) deficiency Carbamyl phosphate synthetase I (CPSI) deficiency Ornithine transcarbamylase (OTC) deficiency Argininosuccinate synthetase (AS) deficiency (Citrullinemia) Argininosuccinate lyase (AL) deficiency (argininosuccinic aciduria Arginase (ARG) deficiency (hyperargininemia) Hyperornithinemia, hyperammonemia and homocitrullinuria (HHH) syndrome, or mitochondrial ornithine carrier (ORNT) deficiency Citrullinemia type II, mitochondrial aspartate/glutamate carrier (CITR) deficiency

You may qualify if:

  • Enrolled in Longitudinal Study of Urea Cycle Disorders (RDCRN UCDC #5101)

You may not qualify if:

  • UCD patients who have undergone orthotopic liver transplantation
  • Significant chronic medical co-morbidity that might confound the analysis as determined by the site investigators.
  • Significant co-morbidities include but are not limited to:
  • diabetes, liver failure + cirrhosis
  • renal failure
  • cardiac disease
  • chronic inflammatory diseases
  • asthma requiring daily long-term control medications
  • significant respiratory disease.

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (11)

University of California, Los Angeles

Los Angeles, California, 90095, United States

Location

The Children's Hospital, Aurora

Aurora, Colorado, 80045, United States

Location

Children's National Medical Center

Washington D.C., District of Columbia, 20010, United States

Location

University of Minnesota

Minneapolis, Minnesota, 55455, United States

Location

Mount Sinai School of Medicine

New York, New York, 10029, United States

Location

Case Western Medical College

Cleveland, Ohio, 44106, United States

Location

Oregon Health and Science University

Portland, Oregon, 97239, United States

Location

Children's Hospital of Philadelphia

Philadelphia, Pennsylvania, 19104, United States

Location

Baylor College of Medicine

Houston, Texas, 77030, United States

Location

Children's Hospital and Regional Medical Center

Seattle, Washington, 98105, United States

Location

The Hospital for Sick Children

Toronto, Ontario, M5G 1X8, Canada

Location

MeSH Terms

Conditions

Urea Cycle Disorders, Inborn

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, InbornBrain Diseases, MetabolicBrain DiseasesCentral Nervous System DiseasesNervous System DiseasesAmino Acid Metabolism, Inborn ErrorsMetabolism, Inborn ErrorsGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and AbnormalitiesMetabolic DiseasesNutritional and Metabolic Diseases

Study Officials

  • George Diaz

    Icahn School of Medicine at Mount Sinai

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
MD

Study Record Dates

First Submitted

February 8, 2012

First Posted

March 1, 2012

Study Start

February 1, 2012

Primary Completion

January 1, 2015

Study Completion

July 1, 2015

Last Updated

October 2, 2015

Record last verified: 2015-10

Locations