Not Yet RecruitingNot Applicable

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

France4 participantsStarted 2025-02

Plain-language 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.

Who can participate

Age range4 Years

SexALL

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Inclusion criteria

✓. 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

Exclusion criteria

✕. Patients with a history of radiotherapy treatment
✕. Patient with lymphocyte lineage damage

What they're measuring

Description of the transcriptional impact of R178, R257, R40 or A136 variants of the ACTG2 gene

Timeframe: At different stages of their experimental ex vivo development (mesenchymal progenitors, determined smooth muscle cells, differentiated smooth muscle cells and 3D organization of smooth muscle) through study completion, an average of 5 years

Trial details

NCT IDNCT06687564

SponsorUniversity Hospital, Grenoble

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2030-11

Contact for this trial

John Rendu, Dr

0476765573 jrendu@chu-grenoble.fr

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