Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment

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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Key information

Conditions

Urea Cycle Disorders Amino Acid Metabolism, Inborn Errors Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Central Nervous System Diseases Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Metabolic Diseases Metabolism, Inborn Errors Nervous System Diseases Nutritional and Metabolic Diseases Urea Cycle Disorders, Inborn

Sex eligibility

All sexes

Study type

Observational

Primary location

University of South Florida

Tampa, Florida, 33612, United States

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

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.

Sponsors and collaborators

Lead sponsor

University of South Florida

Other

Collaborators

National Institutes of Health (NIH)

Registry information

Important dates

Study start: 2014
Primary completion: 2015
Study completion: 2016
First posted: Dec 8, 2014
Registry last updated: Mar 7, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

Completed