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Simple gene test could spot rare gut condition

NCT ID NCT07448753

Diagnosis Sponsor: Marina Coletta Source: ClinicalTrials.gov ↗

What the study statuses mean

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Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only This study
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time

Summary

This study is testing whether checking two specific genes (ACTG2 and FLNA) in blood or saliva can help diagnose a rare condition called chronic intestinal pseudo-obstruction (CIPO), where the gut acts like it is blocked but no physical blockage exists. Researchers will enroll 20 adults with CIPO who also have weak or absent muscle contractions in the esophagus. The goal is to see how often these gene changes occur in this specific group, which could lead to a simpler, less invasive diagnostic test.

What this could mean

Our plain-language read of the trial. This is informational only, not medical advice or a prediction.

What this could lead to
If successful, this could lead to a simple blood or saliva test to diagnose a rare gut disorder, avoiding more invasive procedures.
What could go wrong
This is a very small, early study (20 people) looking only at two genes. It may not find a clear link, and results may not apply to everyone with the condition.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 20 people

The number the study aims to enrol. It can still change while the study runs.

Started

Sep 2025

Expected to finish

Jan 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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

Ages

18 years and older

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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

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Conditions

The condition(s) this trial relates to.

intestinal pseudo-obstruction

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Pseudo obstruction

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    The full official record for this study. This one lists no contact details, but it is the first place any would appear.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • Ospedale Maggiore Policlinico di Milano

    Milan, 20122, Italy