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

RecruitingNAAges 4 Years - anyAllUniversity Hospital, Grenoble
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In plain words

What the trial is, and whether it could suit you

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.

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📋 Eligibility rules (as published)
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
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What it tests

  • Biopsy
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Where

3 sites
Phymedexp Inserm U1046 - Cnrs Umr 9214
Montpellier, France
Tens - Inserm Un Umr 1235
Nantes, France
AP-HP Hôpital Robert Debré
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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