NCT07448753

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.

Trial Health

75
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
20

participants targeted

Target at below P25 for all trials

Timeline
6mo left

Started Sep 2025

Geographic Reach
1 country

1 active site

Status
enrolling by invitation

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress64%
Sep 2025Jan 2027

Study Start

First participant enrolled

September 17, 2025

Completed
5 months until next milestone

First Submitted

Initial submission to the registry

February 25, 2026

Completed
7 days until next milestone

First Posted

Study publicly available on registry

March 4, 2026

Completed
7 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

September 30, 2026

Expected
4 months until next milestone

Study Completion

Last participant's last visit for all outcomes

January 30, 2027

Last Updated

March 5, 2026

Status Verified

March 1, 2026

Enrollment Period

1 year

First QC Date

February 25, 2026

Last Update Submit

March 3, 2026

Conditions

Pseudo Obstruction

Keywords

CIPOIEMFNLAACTG2aperistalsisHRMSANGER

Outcome Measures

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

    October 2025-October 2026

Eligibility Criteria

Age18 Years+
Sexall
Healthy VolunteersNo
Age GroupsAdult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Study participants will be selected from adult CIPO patients referred to and followed at our tertiary referral center during the study period.

You may qualify if:

  • 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)

You may not qualify if:

  • 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

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Ospedale Maggiore Policlinico di Milano

Milan, 20122, Italy

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples or saliva samples

MeSH Terms

Conditions

Intestinal Pseudo-Obstruction

Condition Hierarchy (Ancestors)

IleusIntestinal ObstructionIntestinal DiseasesGastrointestinal DiseasesDigestive System Diseases

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
PROSPECTIVE
Target Duration
2 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR INVESTIGATOR
PI Title
Medical Doctor

Study Record Dates

First Submitted

February 25, 2026

First Posted

March 4, 2026

Study Start

September 17, 2025

Primary Completion (Estimated)

September 30, 2026

Study Completion (Estimated)

January 30, 2027

Last Updated

March 5, 2026

Record last verified: 2026-03

Locations

IT(1)