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

Not Applicable

Completed

• Conditions: Asymptomatic Carrier of the Mutation of the Gene MYT1L; Intellectual Deficiency; Healthy Volunteers
• Interventions: Procedure: Cutaneous biopsy

• Registration Number: NCT02980302
• Lead Sponsor: University Hospital, Grenoble

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2015-09
• Study First Submitted: 2016-07-28
• Study First Submitted QC: 2016-11-29
• Study First Posted: 2016-12-02
• Primary Completion: 2017-06
• Study Completion: 2017-09
• Status Verified: 2018-10
• Last Update Submitted: 2018-10-09
• Last Update Posted: 2018-10-12

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 4

Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Patient	Cutaneous biopsy	-
Asymptomatic carrier	Cutaneous biopsy	Father of the patient : asymptomatic carrier of the same mutation
Two control patients	Cutaneous biopsy	-

Primary Outcome Measures

Name	Time	Method
iPSC caracterization from human fibroblast with MYT1L mutation	Half an hour	Skin sampling under local anesthesia. Evaluation of iPSC gene expression for their pluripotency.

Trial Locations

Locations (1)

UniversityHospitalGrenoble; 🇫🇷 La Tronche, France