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Sponsors and Collaborators: |
Office of Rare Diseases (ORD) Rare Diseases Clinical Research Network |
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Information provided by: | Office of Rare Diseases (ORD) |
ClinicalTrials.gov Identifier: | NCT00237315 |
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.
Condition | Phase |
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Brain Diseases, Metabolic, Inborn Amino Acid Metabolism, Inborn Errors Urea Cycle Disorders |
Phase II |
Study Type: | Observational |
Study Design: | Cohort, Prospective |
Official Title: | Longitudinal Study of Urea Cycle Disorders |
Estimated Enrollment: | 440 |
Study Start Date: | February 2006 |
Estimated Study Completion Date: | September 2010 |
Estimated Primary Completion Date: | September 2009 (Final data collection date for primary outcome measure) |
Urea cycle disorders are a group of rare genetic diseases that affect how protein is broken down in the body. UCDs are caused by a deficiency in one of six enzymes or two mitochondrial membrane transporters responsible for removing ammonia, a waste product of protein metabolism, from the bloodstream.
Normally, ammonia is converted into urea and then removed from the body in the form of urine. In UCDs, however, ammonia accumulates unchecked and is not removed from the body. It then reaches the brain through the blood, where it causes irreversible brain damage and/or death.
All UCDs, except for one (ornithine transcarbamylase deficiency), are inherited as recessive traits. There is a 50% risk of dying or acquiring a severe disability from UCDs, and currently therapy is considered inadequate. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. Biochemical status, growth, and cognitive function will be assessed. Survival and cognitive outcome of the two most commonly used forms of treatment, alternate pathway therapy and transplantation, will be evaluated. In addition, this study will identify the biochemical changes that may predict future metabolic imbalances so that they may be corrected before clinical symptoms develop.
This observational study is funded through 2009. All participants will attend an initial study visit, which will include a medical and diet history, physical and neurological examinations, psychological testing, and blood tests. Participants will then be followed with subsequent study visits, which will last 2-3 hours each. Individuals with neonatal onset UCD will be assessed every 3 months until age 2 and every 6 months thereafter. Individuals with late onset UCD will be evaluated every 6 months. Psychological testing will take place at 6 months, 18 months, 4 years, 8 years, 15 years, and 18 years/adult of age. Psychological testing will take from 30 minutes (for younger children) up to 3 hours, depending on test battery.
Genders Eligible for Study: | Both |
Accepts Healthy Volunteers: | No |
Sampling Method: | Non-Probability Sample |
440 individuals with urea cycle disorders
Inclusion Criteria:
Exclusion Criteria:
United States, California | |
University of California, Los Angeles | Recruiting |
Los Angeles, California, United States, 90095 | |
Contact: Naghmeh Dorrani, MS, CGC 310-825-8084 Ndorrani@mednet.ucla.edu | |
Principal Investigator: Stephen Cederbaum, MD | |
United States, Colorado | |
The Children's Hospital, Aurora | Recruiting |
Aurora, Colorado, United States, 80045 | |
Contact: Renata C. Gallagher, MD, PhD 303-724-2338 | |
Principal Investigator: Renata C. Gallagher, MD, PhD | |
United States, Connecticut | |
Yale University | Recruiting |
New Haven, Connecticut, United States, 06520 | |
Contact: Kristin DeFrancesco 203-737-2585 kristin.defrancesco@yale.edu | |
Principal Investigator: Margretta R. Seashore, MD | |
United States, District of Columbia | |
Children's National Medical Center | Recruiting |
Washington, District of Columbia, United States, 20010 | |
Contact: Kara Lord, MS, CGC 202-476-6216 klord@cnmc.org | |
Principal Investigator: Uta Lichter-Konecki, MD, PhD | |
United States, Massachusetts | |
Boston Children's Hospital | Recruiting |
Boston, Massachusetts, United States, 02115 | |
Contact: Vera Anastasoaie 617-355-7346 Vera.Anastasoaie@childrens.harvard.edu | |
Principal Investigator: Susan Waisbren, MD | |
United States, New York | |
Mount Sinai School of Medicine | Recruiting |
New York, New York, United States, 10029 | |
Contact: Christina Guzman 212-241-6805 christina.guzman@mssm.edu | |
Principal Investigator: George A. Diaz, MD | |
United States, Ohio | |
Case Western Medical College | Recruiting |
Cleveland, Ohio, United States, 44106 | |
Contact: Christine Heggie, BSN, ND 216-844-7124 Christine.Heggie@UHhospitals.org | |
Contact: Shawn E. McCandless, MD 216-844-1612 Shawn.mccandless@case.edu | |
Principal Investigator: Douglas Kerr, MD | |
United States, Oregon | |
Oregon Health and Science University | Recruiting |
Portland, Oregon, United States, 97239 | |
Contact: Lori Paradise, CMA 503-494-2777 paradise@ohsu.edu | |
Principal Investigator: Cary Harding, MD | |
United States, Pennsylvania | |
Children's Hospital of Philadelphia | Recruiting |
Philadelphia, Pennsylvania, United States, 19104 | |
Contact: Irma Payan, RN 215-590-6236 Payan@email.chop.edu | |
Principal Investigator: Marc Yudkoff, MD | |
United States, Tennessee | |
Vanderbilt University Medical Center | Recruiting |
Nashville, Tennessee, United States, 37232 | |
Contact: Teresa Welch-Burke, RN, BSN 615-936-2089 teresa.welch@vanderbilt.edu | |
Principal Investigator: Marshall Summar, MD | |
United States, Texas | |
Baylor College of Medicine | Recruiting |
Houston, Texas, United States, 77030 | |
Contact: Mary Mullins, RN, BSN 800-364-5437 ext 24263 mullins@bcm.edu | |
Principal Investigator: Brendan Lee, MD, PhD | |
United States, Washington | |
Children's Hospital and Regional Medical Center | Recruiting |
Seattle, Washington, United States, 98105 | |
Contact: Linnea Brody, BS, MPH 206-987-3694 linnea.brody@seattlechildrens.org | |
Principal Investigator: Lawrence Merritt, MD | |
Canada, Ontario | |
The Hospital for Sick Children | Recruiting |
Toronto, Ontario, Canada, M5G 1X8 | |
Contact: Annette Feigenbaum, MD 416-813-5340 annette.feigenbaum@sickkids.ca | |
Principal Investigator: Annette Feigenbaum, MD | |
Switzerland | |
University Children's Hospital | Recruiting |
Zurich, Switzerland, CH-8032 | |
Contact: Tamar Stricker +41 44-266-7310 Tamar.stricker@kispi.uzh.ch | |
Principal Investigator: Matthias Baumgartner, MD |
Principal Investigator: | Mark L. Batshaw, MD | Childrens National Medical Center |
Principal Investigator: | Mendel Tuchman, MD | Childrens National Medical Center |
Responsible Party: | Children's Research Institute ( Mendel Tuchman, MD ) |
Study ID Numbers: | RDCRN 5101, U54RR019453 |
Study First Received: | October 10, 2005 |
Last Updated: | November 17, 2008 |
ClinicalTrials.gov Identifier: | NCT00237315 History of Changes |
Health Authority: | United States: Federal Government |
Urea Inherited metabolic disorders |
Metabolism, Inborn Errors Metabolic Diseases Genetic Diseases, Inborn Inborn Amino Acid Metabolism Disorder Amino Acid Metabolism, Inborn Errors Urea Cycle Disorders |
Central Nervous System Diseases Brain Diseases, Metabolic, Inborn Brain Diseases Metabolic Disorder Brain Diseases, Metabolic |
Metabolism, Inborn Errors Pathologic Processes Metabolic Diseases Disease Genetic Diseases, Inborn Amino Acid Metabolism, Inborn Errors |
Nervous System Diseases Central Nervous System Diseases Brain Diseases, Metabolic, Inborn Brain Diseases Brain Diseases, Metabolic |