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Enrolling by Invitation

NCT Number: NCT07448753

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

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.

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Key information

Conditions

Pseudo Obstruction Digestive System Diseases Gastrointestinal Diseases Ileus Intestinal Diseases Intestinal Obstruction Intestinal Pseudo-Obstruction

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Ospedale Maggiore Policlinico di Milano

Milan, 20122, Italy

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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

Sponsors and collaborators

Lead sponsor

Marina Coletta

Other

Collaborators

  • Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
  • Nottingham University Hospitals NHS Trust

Registry information

Official study 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

Acronym: CIPO_GEN

Important dates

Study start
2025
Primary completion
2026
Study completion
2027
First posted
Mar 4, 2026
Registry last updated
Mar 5, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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