ACTG2 variants and smooth muscle development in pediatric intestinal pseudo-obstruction

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

Researchers will compare iPS cell–derived intestinal organoids from PIPO patients carrying ACTG2 variants (R178, R257, R40, or A136) with organoids from control cell lines. Patient samples (blood and biopsy) are reprogrammed into iPS cells and guided to differentiate into intestinal organoids to study transcriptional changes and mesenchymal development. The work aims to identify molecular and cellular mechanisms related to the variants that could affect digestion and organ function. Experiments will analyze gene expression, cell behavior, and tissue-level features at multiple stages of ex vivo development. This approach uses patient-derived models to understand how specific ACTG2 mutations may contribute to pseudo-obstruction pathology.

Why it matters

Who can join: the full rules

Inclusion Criteria:

PIPO Population:

1. Minor or adult patient ≥ 4 years of age
2. Patient with PIPO before age 18
3. Male or female
4. 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.
5. Patient whose assent has been obtained and whose legal guardians have given their written informed consent
6. 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.

Exclusion Criteria:

PIPO population :

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

Where it's running

• Phymedexp Inserm U1046 - Cnrs Umr 9214
  Montpellier, France Recruiting
• Tens - Inserm Un Umr 1235
  Nantes, France Recruiting
• AP-HP Hôpital Robert Debré
  Paris, France Recruiting

Study contacts

• Study coordinator: John Rendu, Dr
• Email: jrendu@chu-grenoble.fr
• Phone: 0476765573

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.