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Enrolling by invitation NCT07448753

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

— Observational Pseudo Obstruction

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
This is an observational study: the protocol does not assign a study treatment.
Who it may be relevant to
Registry conditions: Pseudo Obstruction. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
Italy
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

Unsure about the terms? Read our patient guide →

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

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.

Primary outcome measures

  • 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]

Eligibility criteria

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Case-only

Study locations

Italy · 1 center
  • Ospedale Maggiore Policlinico di Milano — Milan

Identifiers

NCT: NCT07448753 · ID 6328- 6328_17.09.2025_P_bis

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗