A Historical Chart Review and Longitudinal Follow-Up of Identified Patients With Wolman Disease or Cholesteryl Ester Storage Disease, Lysosomal Acid Lipase Deficiency
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 4
- 试验地点
- 1
- 主要终点
- Change in Organ Measurements using Ultrasound Imaging
研究概览
简要总结
The purpose of this study are: to characterize and understand the natural history of disease progression in WD and CESD, and to provide historical controls for WD and CESD for developing clinical treatment trials. The hypothesis is that the variability and clinical progression in WD and CESD is large and represents a continuum of severities from a lethal infantile to near normal adults with only "fatty livers".
详细描述
This is a single institution historical cohort study of patients with Wolman (WD) or Cholesteryl Ester Storage Disease (CESD). Retrospective data will be collected and abstracted from the medical records of both living and deceased patients. Additionally prospective data from living patients will be collected and abstracted annually until the end of the study. Literature sources will be used as secondary source data and will be screened to minimize/eliminate duplicative reports.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •male or female of any age;
- •a clinical diagnosis of WD or CESD as defined by:
- •documented LAL enzyme deficiency OR
- •LAL gene mutations OR
- •a clinical course and tissue biopsy consistent with CESD or WD;
- •written informed consent
排除标准
- 未提供
结局指标
主要结局
Change in Organ Measurements using Ultrasound Imaging
时间窗: Baseline, Year 1, Year 2, Year 3, Year 4
Measurement of the effect over time of LAL deficiency on the liver, spleen, intestines, lungs and adrenals will be performed using ultrasound imaging. Measurement using ultrasound imaging will only be completed if clinically indicated during clinical-care patient visits.
次要结局
- Change in Organ Measurements using X-Ray Imaging(Baseline, Year 1, Year 2, Year 3, Year 4)
- Change in Organ Measurements using Computerized Tomography(Baseline, Year 1, Year 2, Year 3, Year 4)
- Change in Organ Measurements using Magnetic Resonance Imaging(Baseline, Year 1, Year 2, Year 3, Year 4)
- Change in Liver Function using Standardized Laboratory Liver Function Assessment(Baseline, Year 1, Year 2, Year 3, Year 4)
- Change in Pulmonary Function using Standardized Pulmonary Function Assessment(Baseline, Year 1, Year 2, Year 3, Year 4)
- Change in Subjects's Overall Health Status using Clinical Exam(Baseline, Year 1, Year 2, Year 3, Year 4)
- Change in the Subject's Overall Health Status using Verbal Report(Baseline, Year 1, Year 2, Year 3, Year 4)