Role of ACTG2 Variants in Smooth Muscle Determination and Function in Pediatric Intestinal Pseudo-obstruction.
Recruiting
N/A
Interventional Study
PIPO
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
At a Glance
- Age
- 4 and older
- Sex
- Any
- Study type
- Interventional
- Purpose
- Basic Science
- Participants needed
- 4 (estimated)
- Sponsor
- University Hospital, Grenoble · Other
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About This Trial
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.
Trial Locations
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Eligibility Criteria
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 w…
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