Role of ACTG2 Variants in Smooth Muscle Determination and Function in Pediatric Intestinal Pseudo-obstruction.

Recruiting now · Not applicable

Conditions studied: PIPO

In brief

The primary objective of this study is to describe the transcriptional impact of R178, R257, R40 or A136 variants of the ACTG2 gene on iPS differentiation mechanisms up to organoids derived from PIPO patient samples versus those derived from control / WT patients (generation of IPS from cultured cell lines), at different stages of their experimental ex vivo development.

Key facts

Study ID: NCT06687564
Run by: University Hospital, Grenoble
People needed: 4
Starts: 2026-02-04
Expected to finish: 2032-02-03
Last updated by the study team: 2026-05-27

Who can join

Age: 4 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

PIPO Population:
Minor or adult patient ≥ 4 years of age
Patient with PIPO before age 18
Male or female
Patient with PIPO meeting at least 2 of the ESPGHAN criteria (Thapar et al 2018) and carrying the R178, R257, R40 or A136 mutation of the ACTG2 gene.
Patient whose assent has been obtained and whose legal guardians have given their written informed consent
Patient affiliated to the French Social Security system or benefiting from an equivalent plan
WT population:
iPS cell lines MS573 or WT8288 or 202CT or SD378M, from the Nantes University Hospital biological collection and generated from samples from control patients without POIC who have consented to donate their samples.

You may not qualify if…

PIPO population :
Patients with a history of radiotherapy treatment
Patient with lymphocyte lineage damage

Where it is running

Phymedexp Inserm U1046 - Cnrs Umr 9214 — Montpellier, France (enrolling)
Tens - Inserm Un Umr 1235 — Nantes, France (enrolling)
AP-HP Hôpital Robert Debré — Paris, France (enrolling)

Full record on ClinicalTrials.gov

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