NCT07448753
Enrolling By Invitation
Not Applicable
Diagnostic Yield of ACTG2 and FLNA Gene Assessment in Adult Patients With Idiopathic Chronic Intestinal Pseudo-Obstruction and Reduced or Absent Distal Esophageal Contractility
Marina Coletta1 site in 1 country20 target enrollmentStarted: September 17, 2025Last updated:
Overview
- Phase
- Not Applicable
- Status
- Enrolling By Invitation
- Sponsor
- Marina Coletta
- Enrollment
- 20
- Locations
- 1
- Primary Endpoint
- 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
Overview
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.
Study Design
- Study Type
- Observational
- Observational Model
- Case Only
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- All
- Accepts Healthy Volunteers
- No
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-gAChR
Outcomes
Primary Outcomes
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
Secondary Outcomes
No secondary outcomes reported
Investigators
Marina Coletta
Medical Doctor
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico
Study Sites (1)
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