Role of ACTG2 Variants in Smooth Muscle Determination and Function in Pediatric Intestinal Pseudo-obstruction.
NCT ID: NCT06687564
Last Updated: 2025-01-22
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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NOT_YET_RECRUITING
NA
4 participants
INTERVENTIONAL
2025-02-28
2030-11-30
Brief Summary
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Detailed Description
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Various experiments will be carried out (as described in the outcomes) to identify at molecular, cellular and tissue level the mechanisms altered in patients with an R178, R257, R40 or A136 variant, assessing their consequence(s) on the development and functionality of the digestive mesenchyme.
Conditions
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Study Design
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NON_RANDOMIZED
FACTORIAL
BASIC_SCIENCE
NONE
Study Groups
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PIPO patients
PIPO patients with variants of interest
Biopsy
A skin biopsy and a blood sample will be taken to culture the iPS cells and intestinal organoids.
WT
Control arm, same experiments as for patients. Samples from specific cell lines
Biopsy
A skin biopsy and a blood sample will be taken to culture the iPS cells and intestinal organoids.
Interventions
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Biopsy
A skin biopsy and a blood sample will be taken to culture the iPS cells and intestinal organoids.
Other Intervention Names
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Eligibility Criteria
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Inclusion Criteria
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
1. Patients with a history of radiotherapy treatment
2. Patient with lymphocyte lineage damage
4 Years
ALL
No
Sponsors
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University Hospital, Grenoble
OTHER
Responsible Party
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Locations
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Phymedexp Inserm U1046 - Cnrs Umr 9214
Montpellier, , France
Tens - Inserm Un Umr 1235
Nantes, , France
AP-HP Hôpital Robert Debré
Paris, , France
Countries
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Central Contacts
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Facility Contacts
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References
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Zenzeri L, Tambucci R, Quitadamo P, Giorgio V, De Giorgio R, Di Nardo G. Update on chronic intestinal pseudo-obstruction. Curr Opin Gastroenterol. 2020 May;36(3):230-237. doi: 10.1097/MOG.0000000000000630.
Fournier N, Fabre A. Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (ACTG2, MYH11, FLNA, MYLK, RAD21, MYL9 and LMOD1). Intractable Rare Dis Res. 2022 Aug;11(3):113-119. doi: 10.5582/irdr.2022.01060.
Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Baglaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Lupski JR, Beaudet AL, Wangler MF. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19.
de Santa Barbara P, van den Brink GR, Roberts DJ. Development and differentiation of the intestinal epithelium. Cell Mol Life Sci. 2003 Jul;60(7):1322-32. doi: 10.1007/s00018-003-2289-3.
Mahe MM, Brown NE, Poling HM, Helmrath MA. In Vivo Model of Small Intestine. Methods Mol Biol. 2017;1597:229-245. doi: 10.1007/978-1-4939-6949-4_17.
Other Identifiers
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2024-A01516-41
Identifier Type: OTHER
Identifier Source: secondary_id
38RC23.0368
Identifier Type: -
Identifier Source: org_study_id
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