Retrospective Review of Hypertrophic Myopathy in Children
试验速览
- 阶段
- 不适用
- 状态
- 终止
- 入组人数
- 75
- 试验地点
- 1
研究概览
简要总结
The purpose of this study is to identify the patients seen in our practice who are seen with Hypertrophic Myopathy diagnosis in order to better understand the presenting characteristics of their disease, the diagnostic testing to determine the diagnosis, the methods used to follow the disease progression and management practices used in caring for these patients. The objectives of this data review will be an analysis to determine if there is a methodology that will foster improved diagnostic speed and accuracy, and determine the best management practices based on outcomes in these patients.
详细描述
The charts of children followed at Sibley Heart Center of Children's Healthcare of Atlanta will be identified using the Mysis system and screening for the appropriate ICD-9 codes for the types of Hypertrophic Myopathy. These codes include: 425.1, 425.4, 425.7, 425.8, and 425.9. Screening will also be done for known anomalies that are associated with hypertrophic myopathy as seen in some syndromes and metabolic disorders.
Data Collection:
Age at presentation (DOB) History - Prenatal, Family, Current Surgical Procedures Physical Exam results EKG interpretation CXR results Echocardiography results MRI Results Holter monitors results Exercise testing results Radionuclear study results Spiral CT Study results Genetics Testing results Medication usage Enzyme replacement therapy usage Diagnostic laboratory results
Statistics:
A generalized linear model will be performed. Significance will be defined at P≤ 0.05.
研究设计
- 研究类型
- Observational
- 观察模型
- Defined Population
- 时间视角
- Retrospective
入排标准
- 年龄范围
- — 至 21 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •seen at Sibley Heart Center, Children's Healthcare of Atlanta
- •diagnosed with Hypertrophic Myopathy
排除标准
- •those who do not meet inclusion criteria