Clinical and Biological Characterization of Patients and Collection of Samples (THE-RNA)

Public Assistance-Hospitals of Marseille (AP-HM)

Status: Unknown

Conditions: Tricho Hepato Enteric Syndrome

Treatments: Biological: Blood sample; Other: Fecal samples; Behavioral: Neuropsychological

Study type: Interventional

Funder types: Other

Identifiers

NCT04499040

2016-42

Details and patient eligibility

About

Objectives: Collect clinical and biological data about patients with SD/THE, collect samples of patients; create a secure on line database to collect worldwide data about SD/THE Partners : APHM, HCL, APHP

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.

Enrollment: 100 estimated patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• patient < 18 year-old
• patients with SD/THE

control group :

• patients with tufting enteropathy and short bowel syndrome.

Exclusion criteria

• child among whom the parents or the legal representatives refused that their child participates in this study

Trial design

Primary purpose: Diagnostic

Allocation: Non-Randomized

Interventional model: Parallel Assignment

Masking: None (Open label)

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100 participants in 2 patient groups, including a placebo group

patients with SD/THE

Experimental group

Treatment:

Behavioral: Neuropsychological

Other: Fecal samples

Biological: Blood sample

control group

Placebo Comparator group

Treatment:

Other: Fecal samples

Biological: Blood sample