Status:
COMPLETED
Neurologic Injuries in Adults With Urea Cycle Disorders
Lead Sponsor:
Andrea Gropman
Collaborating Sponsors:
Office of Rare Diseases (ORD)
Rare Diseases Clinical Research Network
Conditions:
Brain Diseases, Metabolic, Inborn
Urea Cycle Disorder
Eligibility:
All Genders
18-60 years
Brief Summary
Urea cycle disorders (UCDs) are a group of rare inherited metabolism disorders. The purpose of this study is to evaluate how UCD-related neurologic injuries affect adults with one of the most common t...
Detailed Description
UCDs are a group of rare genetic diseases that affect how protein is broken down in the body. The cause of UCDs is a deficiency in one of eight enzymes responsible for removing ammonia, a waste produc...
Eligibility Criteria
Inclusion
- Inclusion Criteria for Participants with OTCD:
- Diagnosis of OTCD or heterozygote state of OTCD by metabolic or molecular means. Female participants must be clinically stable and heterozygous for OTCD. Male participants must be hemizygous for late onset OTCD.
- Inclusion Criteria for Healthy Controls:
- No known medical or metabolic disorder
- Inclusion Criteria for All Participants:
- IQ of at least 80
- Willing to travel to study site
- English-speaking
- Age between 18 and 60 years
- Exclusion Criteria for All Participants:
- Currently being treated for an acute illness
- History of neuropsychiatric drug use
- Unable to undergo MRI scanning without being sedated
- Unable to participate in neurocognitive and/or motor testing
- Metal device in body that might interfere with MRI scanning
- Pregnancy or breastfeeding
Exclusion
Key Trial Info
Start Date :
March 1 2007
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
July 1 2010
Estimated Enrollment :
46 Patients enrolled
Trial Details
Trial ID
NCT00472732
Start Date
March 1 2007
End Date
July 1 2010
Last Update
June 24 2015
Active Locations (2)
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1
George Washington University School of Medicine
Washington D.C., District of Columbia, United States, 20037
2
Georgetown University
Washington D.C., District of Columbia, United States, 20057