Clinical and Biological Characterization of Patients and Collection of Samples

NCT04499040 | Unknown

• 1 other identifier: 2016-42
• Study Type: interventional
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

Tricho Hepato Enteric Syndrome

Outcome Measures

Primary Outcomes (1)

• Assessment of detailed clinical characteristics of the phenotype of Tricho-hepato-enteric syndrome

  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)

  3 years

Study Arms (2)

patients with SD/THE

EXPERIMENTAL

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

control group

PLACEBO COMPARATOR

Biological: Blood sample; Other: Fecal samples

Interventions

Blood sample BIOLOGICAL

Blood samples to assess biological parameters such as:

control group; patients with SD/THE

Fecal samples OTHER

Microbiota analysis

control group; patients with SD/THE

Neuropsychological BEHAVIORAL

Neuropsychological assessment

patients with SD/THE

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• patient \< 18 year-old
• patients with SD/THE
• control group :
• patients with tufting enteropathy and short bowel syndrome.

You may not qualify if:

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

Sponsors & Collaborators

• Assistance Publique Hopitaux De Marseille: lead

Study Sites (1)

Assistance Publique Hopitaux de Marseille

Marseille, France

Location

MeSH Terms

Conditions

Trichohepatoenteric Syndrome

Interventions

Blood Specimen Collection

Intervention Hierarchy (Ancestors)

Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Investigative Techniques

Study Officials

• Jean-Olivier Arnaud

  Assistance Publique Hopitaux De Marseille

  STUDY DIRECTOR

Central Study Contacts

Alexandre FABRE

CONTACT

491382747; alexandre.fabre@ap-hm.fr

DRS AP-HM, Sponsor

CONTACT

491382747; drci@ap-hm.fr

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NON RANDOMIZED
• Masking: NONE
• Purpose: DIAGNOSTIC
• Intervention Model: PARALLEL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 31, 2016
• First Posted: August 5, 2020
• Study Start: September 1, 2020
• Primary Completion: August 31, 2023
• Study Completion: December 31, 2023
• Last Updated: August 5, 2020

Record last verified: 2020-07

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)