Clinical and Biological Characterization of Patients and Collection of Samples
NCT ID: NCT04499040
Last Updated: 2020-08-05
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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UNKNOWN
NA
100 participants
INTERVENTIONAL
2020-09-01
2023-12-31
Brief Summary
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Currently10 patients (8 with TTC37 mutations and 2 with SKIV2l mutations) present a SD/THE and are managed in France in 5 different centers (Marseille, Paris Trousseau, Paris Necker, Paris Robert Debrés, and Lyon). Most of them are followed in hepato-gastro-enterology units for their intractable diarrhea. Three aspects of the disease: intractable diarrhea, immune defect and liver disease are responsible for the main part of the burden of the disease .For each aspect, the investigators will propose a close follow-up with collection of clinical, biochemical, functional and microbial data.
Collect of clinical date: during a programmed consultation clinical data about symptom will be collected twice a year. A detailed form will be used for better delineation of the symptoms. These data included growth, symptom (diarrhea, pain …), and clinical signs. Most of these children have recurrent sample for follow up. During them some blood will be take for study the immune side but also the platelet function.
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Detailed Description
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Conditions
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Study Design
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NON_RANDOMIZED
PARALLEL
DIAGNOSTIC
NONE
Study Groups
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patients with SD/THE
Blood sample
Blood samples to assess biological parameters such as:
Fecal samples
Microbiota analysis
Neuropsychological
Neuropsychological assessment
control group
Blood sample
Blood samples to assess biological parameters such as:
Fecal samples
Microbiota analysis
Interventions
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Blood sample
Blood samples to assess biological parameters such as:
Fecal samples
Microbiota analysis
Neuropsychological
Neuropsychological assessment
Eligibility Criteria
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Inclusion Criteria
* patients with SD/THE
control group :
* patients with tufting enteropathy and short bowel syndrome.
Exclusion Criteria
ALL
No
Sponsors
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Assistance Publique Hopitaux De Marseille
OTHER
Responsible Party
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Principal Investigators
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Jean-Olivier Arnaud
Role: STUDY_DIRECTOR
Assistance Publique Hopitaux De Marseille
Locations
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Assistance Publique Hopitaux de Marseille
Marseille, , France
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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2016-42
Identifier Type: -
Identifier Source: org_study_id
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