Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

87 participants

Study Classification

OBSERVATIONAL

Study Start Date

2014-10-31

Study Completion Date

2016-07-01

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Urea Cycle Disorders

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Eligibility Criteria

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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

Eligible Sex

ALL

Accepts Healthy Volunteers

No