Development of the Tool " iPSC " for the Functional Study of Mutations Responsible for Mental Retardation
NCT ID: NCT02980302
Last Updated: 2018-10-12
Study Results
Results pending
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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Recruitment Status
COMPLETED
Clinical Phase
NA
Total Enrollment
4 participants
Study Classification
INTERVENTIONAL
Study Start Date
2015-09-30
Study Completion Date
2017-09-30
Brief Summary
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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.
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.
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Detailed Description
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Conditions
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Intellectual Deficiency
Asymptomatic Carrier of the Mutation of the Gene MYT1L
Healthy Volunteers
Study Design
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Allocation Method
NON_RANDOMIZED
Intervention Model
PARALLEL
Primary Study Purpose
OTHER
Blinding Strategy
NONE
Study Groups
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Patient
Group Type
OTHER
Cutaneous biopsy
Intervention Type
PROCEDURE
Under local anesthesia
Asymptomatic carrier
Father of the patient : asymptomatic carrier of the same mutation
Group Type
OTHER
Cutaneous biopsy
Intervention Type
PROCEDURE
Under local anesthesia
Two control patients
Group Type
OTHER
Cutaneous biopsy
Intervention Type
PROCEDURE
Under local anesthesia
Interventions
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Cutaneous biopsy
Under local anesthesia
Intervention Type
PROCEDURE
Eligibility Criteria
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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
* 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
* 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
Eligible Sex
ALL
Accepts Healthy Volunteers
Yes
Sponsors
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University Hospital, Grenoble
OTHER
Sponsor Role
lead
Responsible Party
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Responsibility Role
SPONSOR
Principal Investigators
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Pierre Simon Jouk, Professor
Role: PRINCIPAL_INVESTIGATOR
Grenoble Hospital University
Locations
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UniversityHospitalGrenoble
La Tronche, , France
Site Status
Countries
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France
References
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Stasia MJ, Mollin M, Martel C, Satre V, Coutton C, Amblard F, Vieville G, van Montfrans JM, Boelens JJ, Veenstra-Knol HE, van Leeuwen K, de Boer M, Brion JP, Roos D. Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease. Eur J Hum Genet. 2013 Oct;21(10):1079-84. doi: 10.1038/ejhg.2012.310. Epub 2013 Jan 23.
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Other Identifiers
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38RC14.181
Identifier Type: -
Identifier Source: org_study_id
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