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

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

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Tricho Hepato Enteric Syndrome
• Intervention / Treatment: Biological: Blood sample; Other: Fecal samples; Behavioral: Neuropsychological

• Study Type: Interventional
• Enrollment (Anticipated): 100
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Alexandre FABRE; Phone Number: +33 491382747; Email: alexandre.fabre@ap-hm.fr
• Study Contact Backup: Name: DRS AP-HM, Sponsor; Phone Number: +33 491382747; Email: drci@ap-hm.fr

Study Locations

• France
  • Marseille, France
    • Assistance Publique Hopitaux de Marseille
    • Contact: ALEXANDRE FABRE; Email: alexandre.fabre@ap-hm.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

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 Plan

How is the study designed?

Design Details

• Primary Purpose: Diagnostic
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Placebo Comparator: control group	Biological: Blood sample; Blood samples to assess biological parameters such as: Other: Fecal samples; Microbiota analysis
Experimental: patients with SD/THE	Biological: Blood sample; Blood samples to assess biological parameters such as: Other: Fecal samples; Microbiota analysis; Behavioral: Neuropsychological; Neuropsychological assessment

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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

Collaborators and Investigators

• Sponsor: Assistance Publique Hopitaux De Marseille

Study record dates

Study Major Dates

• Study Start (Anticipated): September 1, 2020
• Primary Completion (Anticipated): August 31, 2023
• Study Completion (Anticipated): December 31, 2023

Study Registration Dates

• First Submitted: August 31, 2016
• First Submitted That Met QC Criteria: July 30, 2020
• First Posted (Actual): August 5, 2020

Study Record Updates

• Last Update Posted (Actual): August 5, 2020
• Last Update Submitted That Met QC Criteria: July 30, 2020
• Last Verified: July 1, 2020

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Pathologic Processes; Skin Diseases; Disease Attributes; Disease; Signs and Symptoms, Digestive; Fetal Diseases; Pregnancy Complications; Growth Disorders; Diarrhea; Syndrome; Fetal Growth Retardation; Diarrhea, Infantile; Facies; Hair Diseases
• Other Study ID Numbers: 2016-42

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: No

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No