NCT04499040

Clinical and Biological Characterization of Patients and Collection of Samples

Tricho-hepato-enteric Syndrome: From Abnormal RNA Decay to Disease Clinical and Biological Characterization of Patients and Collection of Samples -THE-RNA

• Status: Unknown
• Phase: N/A
• Study type: Interventional
• Enrollment: 100 (estimated)
• Sponsor: Assistance Publique Hopitaux De Marseille · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Not accepted

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

Type	Name	Description
BIOLOGICAL	Blood sample	Blood samples to assess biological parameters such as:
OTHER	Fecal samples	Microbiota analysis
BEHAVIORAL	Neuropsychological	Neuropsychological assessment

Timeline

• Start date: 2020-09-01
• Primary completion: 2023-08-31
• Completion: 2023-12-31
• First posted: 2020-08-05
• Last updated: 2020-08-05

Locations

1 site across 1 country: France