NCT07448753Enrolling By Invitation不适用
Diagnostic Yield of ACTG2 and FLNA Gene Assessment in Adult Patients With Idiopathic Chronic Intestinal Pseudo-Obstruction and Reduced or Absent Distal Esophageal Contractility
Marina Coletta1 个研究点 分布在 1 个国家目标入组 20 人开始时间: 2025年9月17日最近更新:
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 发起方
- 入组人数
- 20
- 试验地点
- 1
- 主要终点
- The prevalence of mutations of ACTG2 or FLNA genes in a subgroup of patients with idiopathic CIPO with a myopathic phenotype revealed by reduced or absent distal esophageal contractility evaluated with high resolution esophageal manometry
研究概览
简要总结
To assess the diagnostic yield of Sanger sequencing for ACTG2 and FLNA genes evaluation on blood or saliva sample in patients with idiopathic CIPO in which high-resolution esophageal manometry (HRM) shows reduced (DCI <450 mmHg*s*cm) or absent distal esophageal contractility.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Age ≥ 18 years
- •Male or female
- •Primary chronic intestinal pseudo-obstruction (CIPO)
- •Reduced (DCI < 450 mmHg·s·cm) or absent distal esophageal contractility on high-resolution manometry (HRM)
排除标准
- •Secondary CIPO
- •Primary CIPO due to an autoimmune/inflammatory disorder, evidenced by the presence of any of the following antibodies:
- •anti-gAChR
结局指标
主要结局
The prevalence of mutations of ACTG2 or FLNA genes in a subgroup of patients with idiopathic CIPO with a myopathic phenotype revealed by reduced or absent distal esophageal contractility evaluated with high resolution esophageal manometry
时间窗: October 2025-October 2026
次要结局
未报告次要终点
研究者
Marina Coletta
Medical Doctor
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
研究点 (1)
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