Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

Completed

• Conditions: Urea Cycle Disorders

• Registration Number: NCT02311283
• Lead Sponsor: 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.

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 Timeline

• Study First Submitted: 2014-09-12
• Study Start: 2014-10
• Study First Submitted QC: 2014-12-04
• Study First Posted: 2014-12-08
• Primary Completion: 2015-10
• Study Completion: 2016-07-01
• Status Verified: 2016-09
• Last Update Submitted: 2018-03-05
• Last Update Posted: 2018-03-07

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 87

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 & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

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

Trial Locations

Locations (1)

University of South Florida; 🇺🇸 Tampa, Florida, United States