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ACTG2/FLNA Testing Yield in Adult Idiopathic Chronic Intestinal Pseudo-Obstruction (CIPO) With Reduced/Absent Distal Esophageal Contractility
Sponsor: Marina Coletta
Summary
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.
Official title: Diagnostic Yield of ACTG2 and FLNA Gene Assessment in Adult Patients With Idiopathic Chronic Intestinal Pseudo-Obstruction and Reduced or Absent Distal Esophageal Contractility
Key Details
Gender
All
Age Range
18 Years - Any
Study Type
OBSERVATIONAL
Enrollment
20
Start Date
2025-09-17
Completion Date
2027-01-30
Last Updated
2026-03-05
Healthy Volunteers
No
Conditions
Locations (1)
Ospedale Maggiore Policlinico di Milano
Milan, Italy