Pseudo ObstructionCIPO_GENNCT07448753
ACTG2/FLNA Testing Yield in Adult Idiopathic Chronic Intestinal Pseudo-Obstruction (CIPO) With Reduced/Absent Distal Esophageal Contractility
An observational study of Pseudo Obstruction, run by Marina Coletta at 1 site in Italy.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Pseudo Obstruction
- How many people
- 20 participants
- Where
- 1 siteItaly
- Study dates
- 17 Sep 2025to 30 Jan 2027
- How long will I take part?
- 2 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older 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.
Who may be able to join
- 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)
Who cannot join
- 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
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official 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
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.
- Conditions
- Pseudo Obstruction
- Keywords
- CIPO, IEM, FNLA, ACTG2, aperistalsis, HRM, SANGER
- Medical subject headings
- Intestinal Pseudo-Obstruction
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: October 2025-October 2026
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted4 Mar 2026
- Study start17 Sep 2025
- Primary completion30 Sep 2026 (estimated)
- Study completion30 Jan 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Pseudo ObstructionStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Prospective
- Enrolment
- 20 participants (estimated)
- Target duration
- 2 Years
Sponsor and investigators
- Lead sponsor
- Marina Coletta
- Sponsor type
- University, hospital or other
- Collaborators
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Nottingham University Hospitals NHS Trust
- Responsible party
- Sponsor-investigator, Marina Coletta, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07448753
- Sponsor's protocol ID
- ID 6328- 6328_17.09.2025_P_bis
- Acronym
- CIPO_GEN
- Status last verified
- Mar 2026
- First submitted
- 25 Feb 2026
- Last updated
- 5 Mar 2026
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 5 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official 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
- ClinicalTrials.gov ID
- NCT07448753
- Acronym / sponsor ID
- CIPO_GEN / ID 6328- 6328_17.09.2025_P_bis
- Conditions
- Pseudo Obstruction
- Keywords
- CIPO, IEM, FNLA, ACTG2, aperistalsis, HRM, SANGER
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 20 participants (estimated)
- Lead sponsor
- Marina ColettaUniversity, hospital or other
- Collaborators
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta, Nottingham University Hospitals NHS Trust
- Study start
- 17 Sep 2025 (actual)
- Primary completion
- 30 Sep 2026 (estimated)
- Study completion
- 30 Jan 2027 (estimated)
- First posted
- 4 Mar 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Target follow-up
- 2 Years
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older 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.
Key inclusion criteria (4 listed)
- 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)
Key exclusion criteria (6 listed)
- Secondary CIPO
- Primary CIPO due to an autoimmune/inflammatory disorder, evidenced by the presence of any of the following antibodies:
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 5 Mar 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Pseudo Obstruction, run by Marina Coletta at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 5 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
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). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 5 Mar 2026.