Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

Urea Cycle Disorders Clinical Trial

Official title:

Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02311283
• Other study ID #: UCDC5112
• Status: Completed
• Phase: N/A
• First received: September 12, 2014
• Last updated: March 5, 2018
• Start date: October 2014
• Est. completion date: July 1, 2016

Study information

• Verified date: September 2016
• Source: University of South Florida
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational [Patient Registry]

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 87
• Est. completion date: July 1, 2016
• Est. primary completion date: October 2015
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Disease
• Urea Cycle Disorders
• Urea Cycle Disorders, Inborn

Locations

Country	Name	City	State
United States	University of South Florida	Tampa	Florida

Sponsors (2)

Lead Sponsor	Collaborator
University of South Florida	National Institutes of Health (NIH)

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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.
Primary	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.
Primary	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.

External Links

•   Rare Diseases Clinical Research Network UCDC webpage