SNOMED CT coding variation and grouping for "other findings" in a longitudinal study on urea cycle disorders.
Timothy B Patrick, Rachel Richesson, James E Andrews...
https://pubmed.ncbi.nlm.nih.gov/18998949Actively Recruiting
All Genders
ID00237315
Longitudinal Study of Urea Cycle Disorders
Led by Andrea Gropman · Updated on 2024-02-13
1500
Participants Needed
15
Research Sites
52 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 rare inherited conditions that affect how the body processes protein, leading to dangerous ammonia buildup that can cause brain damage or death. This research aims to study a large group of individuals with different types of UCD to understand the natural course of the disease, how it progresses, treatments used, and patient outcomes over time. The study is observational and focuses on tracking biochemical status, growth, cognitive function, and treatment effects in participants. Participants will have an initial visit that includes medical and diet history, physical and neurological exams, psychological testing, and blood tests. Those with neonatal onset UCD will be assessed every 3 months until age 2, then every 6 months after that. Participants with late onset UCD will have evaluations every 6 months. Psychological testing occurs every 2 years and can last from 30 minutes to 3 hours depending on the tests. During the study, participants will undergo regular assessments lasting 2 to 3 hours at each visit. Researchers will monitor disease severity through various biomarkers and clinical indicators, evaluating the safety and effects of different treatments like alternate pathway therapy and transplantation. The study will continue longitudinally, allowing for long-term observation of participants' health and cognitive outcomes as they grow and receive care.
CONDITIONS
Brief Title
Longitudinal Study of Urea Cycle Disorders
Who Can Participate
All Genders
Eligibility Criteria
You may qualify if you...
- Diagnosis of NAGS deficiency confirmed by mutation, enzyme activity, or family history
- Diagnosis of CPS I deficiency confirmed by enzyme activity, mutation, or family history
- Diagnosis of OTC deficiency confirmed by mutation, enzyme activity, urinary orotate levels, or family history
- Diagnosis of AS deficiency confirmed by elevated citrulline, enzyme activity, mutation, or family history
- Diagnosis of AL deficiency confirmed by argininosuccinic acid presence, enzyme activity, mutation, or family history
- Diagnosis of ARG deficiency confirmed by elevated arginine, enzyme activity, mutation, or family history
- Diagnosis of HHH Syndrome or ORNT deficiency confirmed by elevated ornithine/homocitrulline, mutation, enzyme activity, or family history
- Diagnosis of CITR deficiency confirmed by elevated citrulline, mutation, or family history
- Pending diagnosis of a UCD with suggestive lab values and symptomatic hyperammonemia
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
- Rare unrelated comorbidities such as Down's syndrome, intraventricular hemorrhage in newborns, or extreme prematurity
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
1
2
3
Your Study Journey
Screening
Duration - 2 to 4 weeks
Participants are screened for eligibility to participate in the trial.
1 visit (in-person)
Diagnostic Evaluation
Duration - 1 day
Participants attend an initial study visit including medical and diet history, physical and neurological examinations, psychological testing, and blood tests.
1 visit (in-person)
Long-term Monitoring
Duration - Ongoing through study completion
Participants with neonatal onset UCD are assessed every 3 months until age 2 and every 6 months thereafter; participants with late onset UCD are evaluated every 6 months. Psychological testing occurs every 2 years.
Quarterly or semiannual visits depending on onset, with psychological testing every 2 years
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
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Research Team
J
Jennifer Seminara, MPH
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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