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Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT02311283
Recruitment Status : Completed
First Posted : December 8, 2014
Last Update Posted : March 7, 2018
National Institutes of Health (NIH)
Information provided by (Responsible Party):
University of South Florida

Brief Summary:
The purpose of this study is to determine if patients participating in "The Longitudinal Study of Urea Cycle Disorders" are different than participants in the Urea Cycles Disorders Consortium (UCDC) Rare Diseases Clinical Research Network (RDCRN) Contact Registry and to determine if patients are a good source of medical information.

Condition or disease
Urea Cycle Disorders

Detailed Description:

Participants enrolled in the RDCRN UCDC Contact Registry will receive an email inviting them to participate in the study. Interested participants will be directed to the informed consent document. After agreeing to participate, participants will be directed to the study web portal. The study web portal will be developed and maintained by the Data Management and Coordinating Center at the University of South Florida (USF).

Participants will complete several questionnaires about their urea cycle disorder including diagnosis and treatment information and quality of life.

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Study Type : Observational [Patient Registry]
Actual Enrollment : 87 participants
Observational Model: Cohort
Time Perspective: Cross-Sectional
Target Follow-Up Duration: 1 Year
Official Title: Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
Study Start Date : October 2014
Actual Primary Completion Date : October 2015
Actual Study Completion Date : July 1, 2016

Primary Outcome Measures :
  1. Test the feasibility of collecting survey data from the UCDC Contact Registry [ Time Frame: Up to one year from study activation. ]
    Patient-reported survey data will be reviewed for accuracy and feasibility as a reliable data source.

  2. Assess patient reported outcomes on urea cycle relevant dimensions (applied cognition & subjective well-being). [ Time Frame: Up to one year from study activation. ]
    The PROMIS website will be used to assess the accuracy and completeness of patient reported outcomes on urea cycle relevant dimensions.

  3. Validate data on treatment setting (team and organization) and management (diet, pharmacologic management, transplantation) [ Time Frame: Up to one year from study activation. ]
    Patient-reported survey data will be linked with research data collected in clinic for the same patients to validate patient-reported data on treatment setting and disease management.

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with urea cycle disorders will be recruited via the RDCRN UCDC Contact Registry. The UCDC contact registry consists of over 300 participants with urea cycle disorders.

Inclusion Criteria:

  • Enrollment in UCDC RDCRN Contact Registry
  • Patient reported diagnosis of one of the eight UCDs or UCD diagnosis highly likely/pending.

Exclusion Criteria:

  • Cases of hyperammonemia caused by an organic acidemia, lysinuric protein intolerance, mitochondrial disorders, congenital lactic acidemia, fatty acid oxidation defects and primary liver disease.
  • Individuals with rare and unrelated serious comorbidities, e.g., Down syndrome, intraventricular hemorrhage in the newborn period, and extreme low birth weight (<1,500 grams).
  • Inability to provide informed consent and complete surveys

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT02311283

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United States, Florida
University of South Florida
Tampa, Florida, United States, 33612
Sponsors and Collaborators
University of South Florida
National Institutes of Health (NIH)
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Study Chair: Jeffrey Krischer, PhD University of South Florida
Principal Investigator: Jennifer Seminara, MD Children's Research Institute
Principal Investigator: Vera Anastasoaie, MD Boston Children’s Hospital

Additional Information:
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Responsible Party: University of South Florida Identifier: NCT02311283     History of Changes
Other Study ID Numbers: UCDC5112
First Posted: December 8, 2014    Key Record Dates
Last Update Posted: March 7, 2018
Last Verified: September 2016

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Urea Cycle Disorders, Inborn
Pathologic Processes
Brain Diseases, Metabolic, Inborn
Brain Diseases, Metabolic
Brain Diseases
Central Nervous System Diseases
Nervous System Diseases
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases