Clinical and Biological Characterization of Patients and Collection of Samples

Not Applicable

• Conditions: Tricho Hepato Enteric Syndrome
• Interventions: Biological: Blood sample; Other: Fecal samples; Behavioral: Neuropsychological

• Registration Number: NCT04499040
• Lead Sponsor: Assistance Publique Hopitaux De Marseille

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2016-08-31
• Status Verified: 2020-07
• Study First Submitted QC: 2020-07-30
• Last Update Submitted: 2020-07-30
• Study First Posted: 2020-08-05
• Last Update Posted: 2020-08-05
• Study Start: 2020-09-01
• Primary Completion: 2023-08-31
• Study Completion: 2023-12-31

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 100

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

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
patients with SD/THE	Neuropsychological	-
patients with SD/THE	Blood sample	-
patients with SD/THE	Fecal samples	-
control group	Blood sample	-
control group	Fecal samples	-

Primary Outcome Measures

Name	Time	Method
Assessment of detailed clinical characteristics of the phenotype of Tricho-hepato-enteric syndrome	3 years	Existence or absence of 9 clinical signs suggestive of Tricho-hepato-enteric syndrome, to know: * neonatal characteristics,; * existence or not of the 9 clinical signs suggestive of the disease,; * initial symptoms and chronology leading to the diagnosis,; * organ damage,; * nutrition,; * treatment,; * growth,; * dermatological evaluation,; * hepatic evaluation,; * neuropsychological evaluation (score of WPPSI-III, WISC-IV, WAIS-IV),; * quality of life scale (VSPA in children between 3 and 17 years old and WHOQUOL in adults),; * self-report anxiety scale (STAI in children over 8 years)

Trial Locations

Locations (1)

Assistance Publique Hopitaux de Marseille; 🇫🇷 Marseille, France