Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
Not provided
| Name | Class |
|---|---|
| National Institutes of Health (NIH) | NIH |
Not provided
Not provided
Not provided
Not provided
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.
Not provided
Not provided
Not provided
Not provided
Not provided
| Measure | Description | Time Frame |
|---|---|---|
| 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. | 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. | 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. | Up to one year from study activation. |
Not provided
Not provided
Inclusion Criteria:
Exclusion Criteria:
Not provided
Not provided
Not provided
Not provided
Patients with urea cycle disorders will be recruited via the RDCRN UCDC Contact Registry. The UCDC contact registry consists of over 300 participants with urea cycle disorders.
Not provided
| Name | Affiliation | Role |
|---|---|---|
| Jeffrey Krischer, PhD | University of South Florida | Study Chair |
| Jennifer Seminara, MD | Children's National Research Institute | Principal Investigator |
| Vera Anastasoaie, MD | Boston Children's Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of South Florida | Tampa | Florida | 33612 | United States |
Not provided
| Label | URL |
|---|---|
| Rare Diseases Clinical Research Network UCDC webpage | View source |
Not provided
Not provided
| ID | Term |
|---|---|
| D056806 | Urea Cycle Disorders, Inborn |
| ID | Term |
|---|---|
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
Not provided
Not provided
Not provided
Not provided
Not provided
| D009422 | Nervous System Diseases |
| D000592 | Amino Acid Metabolism, Inborn Errors |
| D008661 | Metabolism, Inborn Errors |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |