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.
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.
Study Type
OBSERVATIONAL
Enrollment
87
University of South Florida
Tampa, Florida, United States
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.
Time frame: Up to one year from study activation.
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.
Time frame: Up to one year from study activation.
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.
Time frame: Up to one year from study activation.
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