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Clinical and Biological Characterization of Patients and Collection of Samples

NCT04499040 · Status: UNKNOWN · Phase: NA · Type: INTERVENTIONAL · Enrollment: 100

Last updated 2020-08-05

No results posted yet for this study

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.

Conditions

  • Tricho Hepato Enteric Syndrome

Interventions

BIOLOGICAL

Blood sample

Blood samples to assess biological parameters such as:

OTHER

Fecal samples

Microbiota analysis

BEHAVIORAL

Neuropsychological

Neuropsychological assessment

Sponsors & Collaborators

  • Assistance Publique Hopitaux De Marseille

    lead OTHER

Principal Investigators

  • Jean-Olivier Arnaud · Assistance Publique Hopitaux De Marseille

Study Design

Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Model
PARALLEL

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2020-09-01
Primary Completion
2023-08-31
Completion
2023-12-31

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04499040 on ClinicalTrials.gov