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Enrolling by invitation Observational

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

NCT07448753 · tracked via the Priya Life Science Italy tracker
Sponsor
Marina Coletta
Phase
Observational
Started
2025-09-17
Last updated
2026-03-05

Condition(s) studied

Pseudo Obstruction

Study 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.

Eligibility

Sex
ALL
Min age
18 Years
Max age
—
Healthy volunteers
No
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

Primary outcome measure(s)

  • 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 — October 2025-October 2026

Trial sites (1)

FacilityCityRegionStatus
Ospedale Maggiore Policlinico di Milano Milan Italy
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07448753 on ClinicalTrials.gov ↗ ← All trials in Italy