Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

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.

Study Overview

• Status: Completed
• Conditions: 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.

• Study Type: Observational
• Enrollment (Actual): 87

Contacts and Locations

Study Locations

• United States
  • Florida
    • Tampa, Florida, United States, 33612
      • University of South Florida

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• 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.

Description

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

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Test the feasibility of collecting survey data from the UCDC Contact Registry	Patient-reported survey data will be reviewed for accuracy and feasibility as a reliable data source.	Up to one year from study activation.
Assess patient reported outcomes on urea cycle relevant dimensions (applied cognition & subjective well-being).	The PROMIS website will be used to assess the accuracy and completeness of patient reported outcomes on urea cycle relevant dimensions.	Up to one year from study activation.
Validate data on treatment setting (team and organization) and management (diet, pharmacologic management, transplantation)	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.	Up to one year from study activation.

Collaborators and Investigators

• Sponsor: University of South Florida
• Collaborators: National Institutes of Health (NIH)
• Investigators: Study Chair: Jeffrey Krischer, PhD, University of South Florida; Principal Investigator: Jennifer Seminara, MD, Children's National Research Institute; Principal Investigator: Vera Anastasoaie, MD, Boston Children's Hospital

Publications and helpful links

Helpful Links

• Rare Diseases Clinical Research Network UCDC webpage

Study record dates

Study Major Dates

• Study Start: October 1, 2014
• Primary Completion (Actual): October 1, 2015
• Study Completion (Actual): July 1, 2016

Study Registration Dates

• First Submitted: September 12, 2014
• First Submitted That Met QC Criteria: December 4, 2014
• First Posted (Estimate): December 8, 2014

Study Record Updates

• Last Update Posted (Actual): March 7, 2018
• Last Update Submitted That Met QC Criteria: March 5, 2018
• Last Verified: September 1, 2016

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Urea Cycle Disorders, Inborn
• Other Study ID Numbers: UCDC5112

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No