By InvitationNot Applicable

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

Italy20 participantsStarted 2025-09-17

Plain-language 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.

Who can participate

Age range18 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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

What they're measuring

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

Timeframe: October 2025-October 2026

Trial details

NCT IDNCT07448753

SponsorMarina Coletta

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2026-09-30

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