Pilot Study: Urea Cycle Disorders Practice Patterns and Outcomes Assessment
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 87
- 试验地点
- 1
- 主要终点
- Test the feasibility of collecting survey data from the UCDC Contact Registry
研究概览
简要总结
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.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Enrollment in UCDC RDCRN Contact Registry
- •Patient reported diagnosis of one of the eight UCDs or UCD diagnosis highly likely/pending.
排除标准
- •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
结局指标
主要结局
Test the feasibility of collecting survey data from the UCDC Contact Registry
时间窗: Up to one year from study activation.
Patient-reported survey data will be reviewed for accuracy and feasibility as a reliable data source.
Validate data on treatment setting (team and organization) and management (diet, pharmacologic management, transplantation)
时间窗: 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.
Assess patient reported outcomes on urea cycle relevant dimensions (applied cognition & subjective well-being).
时间窗: 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.
次要结局
未报告次要终点