Development of the Tool " iPSC " for the Functional Study of Mutations Responsible for Mental Retardation (Rementips)

October 9, 2018 updated by: University Hospital, Grenoble

Development of the Tool " iPSC " (Induced Pluripotent Stem Cells) for the Functional Study of Mutations Responsible for Mental Retardation - Application to Familial Study of MYT1L Gene Mutations

According to the World Health Organization (WHO), mental retardation (MR) is defined by an intelligence quotient (IQ) < 70 and touches between 1 to 3 % of the general population. Profound mental retardation (QI <25), severe (IQ: 25-40) and moderate (QI : 40-50) have a prevalence of 0,3-0,5% while the prevalence of mild MR, defined by an IQ between 50 and 70 is evaluated to about 1,5 %.

The origin of MR can be infectious, toxic, traumatic, genetic or environmental. genetic causes of MR gather the number and structure anomalies of the chromosomes, the genomic microreorganization, monogenic diseases and more rarely other non Mendelian-inherited anomalies like print or epigenetic anomalies, mutations of the mitochondrial genome etc... Genetic causes represents 50% of moderate to severe, whereas environmental factors (malnutrition, cultural deprivation,...) plays an important role in mild MR.

The main goal of this study is to get an innovative tool (neuronal distinction of iPSC) that wil allow to study the functionnal impact of mutations uppon genes probably involved in MR like MYT1L. The main criteria associated to characterisation of the tool by the trial is the study of the pluripotency of iPSC obtained and to highlight the mutation of the gene MYT1L in the iPSC.

Neurons from the iPSC of the patient and his father du patient wille also be morphologically characterised, but also thanks to the expression of specifically neurals genes.

Characteristics of iPSC and neurons from d'iPSC with MYT1L mutation will be compared among the patient and his father, in relation with the same cells coming from the two witnesses.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

Study Type

Interventional

Enrollment (Actual)

4

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • France
      • La Tronche, France, 38700
        • UniversityHospitalGrenoble

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Description

Inclusion Criteria :

  • Patient with an intellectual deficiency and/or associated signs that received a chromosomic analysis by CGH-array revealing a variant of unknown signification involvingone or more genes candidates for mental retardation.
  • Certificate of genetic genetic counselling and signed consent.
  • Under 18 persons may be necessary because intellectual deficiency is often diagnosed before the adult age.
  • Number of cases is very limited in this preliminary study and only one patient showing a rare mutation of MYT1L gene and his father ( asymptomatic carrier of the same mutation) will be study.
  • Affiliation to a social security system

Exclusion Criteria :

  • Persons mentionned L1121-5 to L1121-8 of CSP (all protected persons)
  • Persons suffering from acute infections for the practice of cutaneous biopsy under local anesthesia.
  • Persons showing an hemostasis disorder acquired or induced
  • Persons sous traitement antiagrégant anticoagulant
  • Persons with a mutation in th gene MYT1L

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

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

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Patient
Procedure: Cutaneous biopsy
Under local anesthesia
Other: Asymptomatic carrier
Father of the patient : asymptomatic carrier of the same mutation
Procedure: Cutaneous biopsy
Under local anesthesia
Other: Two control patients
Procedure: Cutaneous biopsy
Under local anesthesia

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
iPSC caracterization from human fibroblast with MYT1L mutation
Time Frame: Half an hour
Skin sampling under local anesthesia. Evaluation of iPSC gene expression for their pluripotency.
Half an hour

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Grenoble

Investigators

  • Principal Investigator: Pierre Simon Jouk, Professor, Grenoble Hospital University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

September 1, 2015

Primary Completion (Actual)

June 1, 2017

Study Completion (Actual)

September 1, 2017

Study Registration Dates

First Submitted

July 28, 2016

First Submitted That Met QC Criteria

November 29, 2016

First Posted (Estimate)

December 2, 2016

Study Record Updates

Last Update Posted (Actual)

October 12, 2018

Last Update Submitted That Met QC Criteria

October 9, 2018

Last Verified

October 1, 2018

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 38RC14.181

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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