Status:

COMPLETED

Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

Lead Sponsor:

University of South Florida

Collaborating Sponsors:

National Institutes of Health (NIH)

Conditions:

Urea Cycle Disorders

Eligibility:

All Genders

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) R...

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. Aft...

Eligibility Criteria

Inclusion

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

Exclusion

  • 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

Key Trial Info

Start Date :

October 1 2014

Trial Type :

OBSERVATIONAL

Allocation :

ACTUAL

End Date :

July 1 2016

Estimated Enrollment :

87 Patients enrolled

Trial Details

Trial ID

NCT02311283

Start Date

October 1 2014

End Date

July 1 2016

Last Update

March 7 2018

Active Locations (1)

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1

University of South Florida

Tampa, Florida, United States, 33612