NCT04120168已完成不适用
Multicenter Non-Drug Screening Study to Determine the Frequency of Duchenne Muscular Dystrophy and Late-onset Pompe Disease in Children With Unexplained Transaminase Elevation
Turkish Society of Pediatric Gastroenterology, Hepatology and Nutrition51 个研究点 分布在 1 个国家目标入组 590 人开始时间: 2019年4月1日最近更新:
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 590
- 试验地点
- 51
- 主要终点
- Frequency of Duchenne muscular dystrophin in boys and adolescents
研究概览
简要总结
This is a multicenter prospective non-drug screening study. The working period is 12 months. There is no research product to be followed or used in the study.
Demographic data, medical and family histories of the patients included in the study will be collected at the first admission. The following laboratory values of the patients will be collected:
- Alanine Transaminase (ALT)
- Aspartate Transaminase (AST)
- Gamma Glutamyl Transferase (GGT)
- Creatine Phosphokinase (CPK)
- In addition, physical examination information and Abdominal USG and Liver Biopsy Results, if any, will be collected. Following the above scans, enzyme analysis for late-onset Pompe disease in boys and girls and adolescents with high CPK levels and molecular genetic tests for Duchenne muscular dystrophy in boys and adolescents with high CPK levels will be performed.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Prospective
入排标准
- 年龄范围
- 3 Months 至 18 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •3 months -18 years old boys and girls
- •Serum transaminase levels (serum ALT and / or AST levels> 1.52 upper limit of normal (ULN)) for at least 3 months
- •The willingness of the patient and / or legal representative to sign the written consent form
排除标准
- •Patients less than 3 months
- •Patients with a known history of liver disease
- •Patients with a known history of muscle disease
- •Patients with a known history of rheumatologic disease
- •Patients with clinical history or physical examination findings that support the possibility of liver disease (Jaundice, variceal bleeding, hepatomegaly, splenomegaly, ascites)
- •ICU patients
- •Patients with known congenital anomalies
- •Patients with organ failure
- •Patients with elevated serum GGT, Total Bliribun or Direct Bilirubin levels
结局指标
主要结局
Frequency of Duchenne muscular dystrophin in boys and adolescents
时间窗: 1 year
The endpoints of the study were to determine the frequency of Duchenne muscular dystrophin in boys and adolescents with unexplained transaminase elevation for at least 3 months and in late onset Pompe disease in girls and boys and to determine the demographic and clinical characteristics of these patients.
次要结局
未报告次要终点
研究者
研究点 (51)
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