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

Diagnostic Yield of ACTG2 and FLNA Gene Assessment in Adult Patients With Idiopathic Chronic Intestinal Pseudo-Obstruction and Reduced or Absent Distal Esophageal Contractility

Status

Enrolling by invitation

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT07448753

Acronym

CIPO_GEN

Enrollment

Registered

2026-03-04

Start date

2025-09-17

Completion date

2027-01-30

Last updated

2026-03-05

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Pseudo Obstruction

Keywords

CIPO, IEM, FNLA, ACTG2, aperistalsis, HRM, SANGER

Brief 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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

Measure	Time frame
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

Countries

Italy

Outcome results