Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

Overview

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 Type

  • Study Type: Observational [Patient Registry]
  • Study Design
    • Time Perspective: Cross-Sectional
  • Study Primary Completion Date: October 2015

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.

Clinical Trial Outcome Measures

Primary Measures

  • 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.
  • 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.
  • 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.

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • University of South Florida
  • Collaborator
    • National Institutes of Health (NIH)
  • Provider of Information About this Clinical Study
    • Sponsor
  • Overall Official(s)
    • Jeffrey Krischer, PhD, Study Chair, University of South Florida
    • Jennifer Seminara, MD, Principal Investigator, Children’s National Research Institute
    • Vera Anastasoaie, MD, Principal Investigator, Boston Children’s Hospital

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