Clinical Studies
5101: Longitudinal Study of Urea Cycle Disorders
Status: Recruiting
Summary:
Please Note: The Rare Diseases Clinical Research Network will make every effort to enroll all the patients we can, but we cannot make any guarantees that we will be able to enroll everyone in a particular study who wants to participate.
Background
Individuals with UCD cannot remove ammonia, a waste product, from the blood. The purpose of this study is to conduct a longitudinal investigation of the natural history, morbidity, and mortality in people with urea cycle disorders (UCD). A longitudinal study is a research design in which the same subjects are observed repeatedly over a period of time. In this study, we will look at how people with a UCD grow and develop over time and how often they get sick.
The research questions are:
- What is the prevalence of specific morbid indicators of disease severity, including hyperammonemia, developmental disabilities, and various long-term kidney and liver effects? What is the fatality rate associated with the various forms of UCD?
- What are the correlations between various biomarkers and disease severity and progression?
- What is the safety and efficacy of currently used and new UCD therapies?
About this Study
This is a longitudinal study of 440 individuals with urea cycle disorders. Those participating in this study will be evaluated every three to twelve months, depending age and time of diagnosis. Participants two years of age and younger that were diagnosed with UCD within the first four weeks of life will be evaluated every three months. Those who are over two years of age or were diagnosed after four weeks of age will be evaluated every six months. Participants older than 18 years of age or who have had liver transplants will be evaluated once every year. The first study visit will take place at one of the UCDC clinical sites (see the list of participating sites below). Follow up visits can be conducted with the participant’s local metabolic physician.
For each visit, you will be asked to:
- Keep a log of what you eat for three days and talk to a dietician about what you eat
- Have a physical exam
- Fill out a feedback form about your life
- Give blood (1 to 2 teaspoons)
- Give a urine sample (some visits)
We will look at your medical records from your local doctor’s office so that we can collect information about your medical history. Sometimes you will also have a neuropsychological test so that we can keep track of your intellectual development. The neuropsychological test includes exercises, games and quizzes. These help measure your intelligence, attention span, language skills, visual organization, memory, and learning abilities.
Targeted Enrollment
To be eligible to participate, you must:
Be an individual with one of the following:
- NAGS Deficiency
- CPS I deficiency
- OTC deficiency
- AS deficiency (Citrullinemia),
- AL deficiency (Argininosuccinic Aciduria, ASA)
- ARG Deficiency (Hyperargininemia)
- HHH Syndrome or ORNT Deficiency
- CITR Deficiency (Citrullinemia Type II)
- or urea cycle disorder highly likely/diagnosis pending
You are not eligible to participate if:
You have:
- Hyperammonemia caused by another disorder
- Rare and unrelated serious comorbidities (e.g. genetic syndrome effecting brain development, such as Down Syndrome, intraventricular hemorrhage in the newborn period and extreme prematurity (<1500 g)
How to Participate:
In order to participate in a study, you must personally contact the study coordinator of any of the participating institutions by phone or by e-mail. Please use the information below to inquire about participation.
- Vanderbilt University Medical Center, Nashville, TN, Marshall Summar, MD
Study Coordinator: Teresa Welch-Burke RN, BSN
Phone: 615.936.2089
E-mail: teresa.welch@vanderbilt.edu
- Children's National Medical Center, Washington, DC, Uta Lichter-Konecki, MD
Study Coordinator: Kara Lord, MS
Phone: 202-476-6216
E-mail: klord@cnmc.org
- Texas Children’s Hospital/Baylor College of Medicine, Houston, TX, Brendan Lee, MD, PhD
Study Coordinator: Mary Mullins RN, BSN
Office: 832.822.4263
E-mail: mullins@bcm.edu
- Rainbow Babies and Children's Hospital, Cleveland, OH, Douglas Kerr, MD, PhD
Study Coordinator: Christine W. Heggie, R.N., N.D
Phone: 216.844.7124
E-mail: Christine.Heggie@UHhospitals.org
- Yale University School of Medicine, New Haven, CT, Margretta Seashore, MD
Study Coordinator: Kristen DeFrancesco
Phone: 203-737-2585
E-mail:
- Yale University School of Medicine,al of Philadelphia, Philadelphia, PA, Marc Yudkoff, MD
Study Coordinator: Irma Payan, RN, PNP
Phone: 215.590.6236
E-mail: payan@email.chop.edu
- Mt. Sinai Hospital, New York, NY, George Diaz, MD, PhD
Study Coordinator: Javier Delgado
Phone: 212.241.0765
E-mail: ndorrani@mednet.ucla.edu
- The Hospital for Sick Children, Toronto, Ontario, Annette Feigenbaum FRCPC, FCCMG
Annette Feigenbaum FRCPC, FCCMG
Phone: 416.813.5340
E-mail: annette.feigenbaum@sickkids.ca
Project Manager: Mohammed Hussain
Phone: 416.813.7654 x2646
E-mail: mohammed.hussain@sickkids.ca
- University Children's Hospital, Zurich, Switzerland, Beat Steinmann, MD
Study Coordinator: Tamar Stricker
Phone: +41 44 266 7278
E-mail: Tamar.stricker@kispi.uzh.ch
- Children's Hospital Boston, Boston, MA, Susan Waisbren, PhD
Study Coordinator: Vera Anastasoaie
Phone: 617.355.7346
E-mail: Vera.Anastasoaie@childrens.harvard.edu
- The Children’s Hospital, Aurora, CO, Renata C. Gallagher, M.D., Ph.D.
Shannon L. Scrivner, MS, CGC
Certified Genetic Counselor
Study Coordinator
Phone: 303-724-2353
E-mail: Scrivner.Shannon@tchden.org
- Oregon Health & Science University, Portland, Oregon, Cary Harding
Study Coordinator: Tina Marrone
Phone: 503.418.3620
E-mail: marronet@ohsu.edu
- Children's Hospital and Regional Medical Center, Seattle, Washington, J. Lawrence Merritt, II, M.D.
Study Coordinator: Linnea Brody, BS, MPH
Phone: 206-987-3694
E-mail: linnea.brody@seattlechildrens.org
Study Principal Investigators:
Mark Batshaw, MD and Mendel Tuchman, MD
Children's National Medical Center
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