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

Healthy Volunteers Clinical Trial

— Rementips  

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02980302
• Other study ID #: 38RC14.181
• Status: Completed
• Phase: N/A
• Start date: September 2015
• Est. completion date: September 2017

Study information

• Verified date: October 2018
• Source: University Hospital, Grenoble
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 4
• Est. completion date: September 2017
• Est. primary completion date: June 2017
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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

Related Conditions & MeSH terms

• Asymptomatic Carrier of the Mutation of the Gene MYT1L
• Healthy Volunteers
• Intellectual Deficiency
• Intellectual Disability

Intervention

Procedure:
• Cutaneous biopsy
Under local anesthesia

Locations

Country	Name	City	State
France	UniversityHospitalGrenoble	La Tronche

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Grenoble

Country where clinical trial is conducted

France, 

References & Publications (28)

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* Note: There are 28 references in all — Click here to view all references

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	iPSC caracterization from human fibroblast with MYT1L mutation	Skin sampling under local anesthesia. Evaluation of iPSC gene expression for their pluripotency.	Half an hour