Actively Recruiting
Longitudinal Study of Urea Cycle Disorders
Led by Andrea Gropman · Updated on 2024-02-13
1500
Participants Needed
15
Research Sites
1065 weeks
Total Duration
On this page
Sponsors
A
Andrea Gropman
Lead Sponsor
N
National Center for Research Resources (NCRR)
Collaborating Sponsor
AI-Summary
What this Trial Is About
Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. The study will focus on the natural history, disease progression, treatment, and outcome of individuals with UCD.
CONDITIONS
Official Title
Longitudinal Study of Urea Cycle Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Diagnosis of NAGS deficiency confirmed by mutation, enzyme activity less than 20% of control, or hyperammonemia with affected first-degree relative
- Diagnosis of CPS I deficiency confirmed by enzyme activity less than 20% of control, mutation, or hyperammonemia with affected first-degree relative
- Diagnosis of OTC deficiency confirmed by mutation, enzyme activity less than 20% of control, elevated urinary orotate, or hyperammonemia with affected first-degree relative
- Diagnosis of AS deficiency (Citrullinemia) confirmed by elevated plasma citrulline, decreased enzyme activity, mutation, or hyperammonemia with affected first-degree relative
- Diagnosis of AL deficiency (Argininosuccinic Aciduria) confirmed by argininosuccinic acid presence, decreased enzyme activity, mutation, or hyperammonemia with affected first-degree relative
- Diagnosis of ARG deficiency (Hyperargininemia) confirmed by elevated arginine, decreased enzyme levels, mutation, or hyperammonemia with affected first-degree relative
- Diagnosis of HHH Syndrome or ORNT deficiency confirmed by elevated ornithine and homocitrulline, mutation, decreased ornithine incorporation, or hyperammonemia with affected first-degree relative
- Diagnosis of CITR deficiency (Citrullinemia Type II) confirmed by elevated citrulline, mutation, or hyperammonemia with affected first-degree relative
- Pending diagnosis of UCD with lab values suggestive and symptomatic hyperammonemic episodes
You will not qualify if you...
- Hyperammonemia caused by organic acidemia, lysinuric protein intolerance, mitochondrial disorder, congenital lactic acidemia, fatty acid oxidation defects, or primary liver disease
- Presence of unrelated rare comorbidities such as Down's syndrome, intraventricular hemorrhage in newborn period, or extreme prematurity
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 15 locations
1
University of California, Los Angeles
Los Angeles, California, United States, 90095
Actively Recruiting
2
Stanford University Medical Center
Stanford, California, United States, 94305
Actively Recruiting
3
Children's Hospital Colorado
Aurora, Colorado, United States, 80045
Actively Recruiting
4
Children's National Medical Center
Washington D.C., District of Columbia, United States, 20010
Actively Recruiting
5
Children's Hospital Boston (UCDC New England Center)
Boston, Massachusetts, United States, 02115
Actively Recruiting
6
University of Minnesota
Minneapolis, Minnesota, United States, 55455
Actively Recruiting
7
Icahn School of Medicine at Mount Sinai
New York, New York, United States, 10029
Actively Recruiting
8
Case Western Medical College
Cleveland, Ohio, United States, 44106
Actively Recruiting
9
Oregon Health and Science University
Portland, Oregon, United States, 97239
Actively Recruiting
10
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
Actively Recruiting
11
Baylor College of Medicine
Houston, Texas, United States, 77030
Actively Recruiting
12
Children's Hospital and Regional Medical Center
Seattle, Washington, United States, 98105
Actively Recruiting
13
The Hospital for Sick Children
Toronto, Ontario, Canada, M5G 1X8
Actively Recruiting
14
University of Heidelberg
Heidelberg, Germany
Actively Recruiting
15
University Children's Hospital
Zurich, Switzerland, CH-8032
Actively Recruiting
Research Team
J
Jennifer Seminara, MPH
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
0
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