Clinical Trials in France / NCT06687564
Recruiting
Not applicable
Role of ACTG2 Variants in Smooth Muscle Determination and Function in Pediatric Intestinal Pseudo-obstruction.
NCT06687564 · tracked via the Priya Life Science France tracker
Condition(s) studied
PIPO
Investigational drug(s) / intervention(s)
Biopsy
Biopsy: A skin biopsy and a blood sample will be taken to culture the iPS cells and intestinal organoids.
Study 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.
Eligibility
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
Primary outcome measure(s)
- Description of the transcriptional impact of R178, R257, R40 or A136 variants of the ACTG2 gene — 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
Difference in transcript expression (%) in RNASeq transcriptomic analysis between samples carrying the R178, R257, R40 or A136 variants of the ACTG2 gene on the differentiation mechanisms of iPS up to organoids derived from PIPO patient samples versus those derived from control patients
Trial sites (3)
| Facility | City | Region | Status |
|---|---|---|---|
| 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 |
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Official registry record
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
View NCT06687564 on ClinicalTrials.gov ↗ ← All trials in France