NCT06687564

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

• Status: Not Yet Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 4 (estimated)
• Sponsor: University Hospital, Grenoble · Academic / Other
• Sex: All
• Age: 4 Years
• Healthy volunteers: Not accepted

Summary

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.

Detailed description

Recruited patients will be sampled during a consultation: a blood sample and a biopsy will be taken directly from the patient. Once these samples have been taken, they will be cultured to be reprogrammed into iPS cells, then grown and differentiated into intestinal organoids. Various experiments will be carried out (as described in the outcomes) to identify at molecular, cellular and tissue level the mechanisms altered in patients with an R178, R257, R40 or A136 variant, assessing their consequence(s) on the development and functionality of the digestive mesenchyme.

Conditions

• PIPO

Interventions

Type	Name	Description
PROCEDURE	Biopsy	A skin biopsy and a blood sample will be taken to culture the iPS cells and intestinal organoids.

Timeline

• Start date: 2025-02-01
• Primary completion: 2030-11-01
• Completion: 2030-11-01
• First posted: 2024-11-13
• Last updated: 2025-01-22

Locations

3 sites across 1 country: France