ACTG2/FLNA Testing Yield in Adult Idiopathic Chronic Inte... | NCT07448753

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

NCT07448753

Sponsor

Marina Coletta

Status

Enrolling by invitation

Last Update Posted

Mar 5, 2026Actual

Enrollment

20Estimated

Phase

Not provided

Conditions

Pseudo Obstruction

Interventions

Not provided

Countries

Italy

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

Large Document Module

Document Has No Statistical Analysis Plan (SAP)

Derived Section

Miscellaneous Info Module

Version Holder

Status Module

Record Verification Date

Mar 2026

Overall Recruitment Status or Expanded Access Status

Enrolling by invitation

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Sep 17, 2025Actual

Primary Completion Date

Sep 30, 2026Estimated

Completion Date

Jan 30, 2027Estimated

First Submitted Date

Feb 25, 2026

First Submission Date that Met QC Criteria

Feb 25, 2026

First Posted Date

Mar 4, 2026Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 3, 2026

Last Update Posted Date

Mar 5, 2026Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Marina Coletta, Medical Doctor, Fondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoSponsor-Investigator

Lead Sponsor

Marina ColettaOTHER

Collaborators

Name	Class
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta	OTHER
Nottingham University Hospitals NHS Trust	OTHER

Oversight Module

Has Data Monitoring Committee (DMC)

Not provided

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

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.

Detailed Description

Not provided

Design Module

Study Type

Observational

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Yes

Target Follow-Up Duration

2 Years

Phases

Not provided

Interventional Study Design

Allocation

Not provided

Intervention Model

Biospecimen

Retention

Enrollment

20Estimated

Outcomes Module

Primary Outcomes

Measure	Description	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

Secondary Outcomes

Not provided

Other Outcomes

Not provided

Eligibility Module

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

Accepts Healthy Volunteers

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

18 Years

Maximum Age

Not provided

Standard Ages

AdultOlder Adult

Study Population

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

Sampling Method

Non-Probability Sample

Contacts/Locations Module

Central Contacts

Not provided

Overall Officials

Not provided

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Ospedale Maggiore Policlinico di Milano		Milan		20122	Italy

Type	Includes Protocol	Includes SAP	Includes ICF	Document Label	Document Date	Document Uploaded Date	Document File Name
Prot	Yes	No	No	Study Protocol	Jul 21, 2025	Feb 25, 2026	Prot_000.pdf

Condition Browse Module

MeSH Terms

ID	Term
D007418	Intestinal Pseudo-Obstruction

Ancestor Terms

ID	Term
D045823	Ileus
D007415	Intestinal Obstruction
D007410	Intestinal Diseases
D005767	Gastrointestinal Diseases

Browse Leaves

Not provided

Browse Branches

Not provided