ACTG2/FLNA Testing Yield in Adult Idiopathic Chronic Intestinal Pseudo-Obstruction (CIPO) With Reduced/Absent Distal Esophageal Contractility

N/AEnrolling By InvitationNCT07448753

Marina Coletta20 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Pseudo Obstruction

Eligibility

Sex: ALLMin age: 18 Years

Medical Language ↔ Plain English

Inclusion Criteria: * 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) Exclusion Criteria: * Secondary CIPO * Primary CIPO due to an autoimmune/inflammatory disorder, evidenced by the presence of any of the following antibodies: * anti-Hu * anti-GAD * ASMA * anti-gAChR

Locations (1)

Ospedale Maggiore Policlinico di Milano

Milan, Italy

Outcomes

Primary Outcomes

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

Time frame: October 2025-October 2026

Data from ClinicalTrials.gov

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