Genetic study aims to unlock mysteries of rare gut disease in children
NCT ID NCT01114035
First seen Jun 24, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This completed study looked at 41 children with intestinal epithelial dysplasia (also called tufting enteropathy), a rare gut condition. Researchers collected blood and skin samples to find the genes and mutations responsible for the disease. The goal was to better understand the condition, not to test a treatment.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- What this could lead to
- If successful, this could help identify the genetic causes of tufting enteropathy, potentially pointing toward future diagnostic or treatment approaches.
- What could go wrong
- This is an observational genetic study, not a treatment trial. It may not directly lead to therapies, and findings may not apply to all patients.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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41 people
The number who actually took part.
- Start date
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Apr 2010
- Finished
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Jul 2013
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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Up to 15 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion criteria : Patient sent in the service of Gastroenterology Pediatric Hepatology of the Hospital Necker Enfants Malades for an intestinal transplantation, from 0 to 15 years old presenting: * A known epithelial dysplasia (Diagnosis established on the clinical and histo-morphological criteria from one or several intestinal biopsies, with or without diagnosis known or suspected in the family). The objectives are the phenotypic characterization of the case and the revealing of markers characteristic immuno-histochemistry which can be of use to the diagnosis and direct to candidate genes * Or a suspicion of dysplasia epithelial (compatible clinical History(Story) with or without extra-digestive demonstrations(appearances) of type keratinate punctuated superficial (KPS), abnormalities cutanea or atresia CHOANS with atypical digestive histology and without diagnosis known in the family). The objectives are the diagnosis on the basis of the immuno-histochemistry expression and the existence of an infringement(achievement) conjunctival and the phenotypic characterization of the case * The lit(enlightened) and written consent of both holders of the parental authority must be beforehand obtained as well as that of the patient if it is in age to understand(include). Exclusion criteria : * Not membership in a national insurance scheme (beneficiary or legal successor) * Family not understanding(including) French * Refusal of one of both relatives(parents)
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Necker Hospital
Paris, 75015, France