<clinical_study>
  <!-- This xml conforms to an XML Schema at:
    https://clinicaltrials.gov/ct2/html/images/info/public.xsd -->
  <required_header>
    <download_date>ClinicalTrials.gov processed this data on September 20, 2023</download_date>
    <link_text>Link to the current ClinicalTrials.gov record.</link_text>
    <url>https://clinicaltrials.gov/ct2/show/NCT02980302</url>
  </required_header>
  <id_info>
    <org_study_id>38RC14.181</org_study_id>
    <nct_id>NCT02980302</nct_id>
  </id_info>
  <brief_title>Development of the Tool &quot; iPSC &quot; for the Functional Study of Mutations Responsible for Mental Retardation</brief_title>
  <acronym>Rementips</acronym>
  <official_title>Development of the Tool &quot; iPSC &quot; (Induced Pluripotent Stem Cells) for the Functional Study of Mutations Responsible for Mental Retardation - Application to Familial Study of MYT1L Gene Mutations</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Grenoble</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University Hospital, Grenoble</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      According to the World Health Organization (WHO), mental retardation (MR) is defined by an&#xD;
      intelligence quotient (IQ) &lt; 70 and touches between 1 to 3 % of the general population.&#xD;
      Profound mental retardation (QI &lt;25), severe (IQ: 25-40) and moderate (QI : 40-50) have a&#xD;
      prevalence of 0,3-0,5% while the prevalence of mild MR, defined by an IQ between 50 and 70 is&#xD;
      evaluated to about 1,5 %.&#xD;
&#xD;
      The origin of MR can be infectious, toxic, traumatic, genetic or environmental. genetic&#xD;
      causes of MR gather the number and structure anomalies of the chromosomes, the genomic&#xD;
      microreorganization, monogenic diseases and more rarely other non Mendelian-inherited&#xD;
      anomalies like print or epigenetic anomalies, mutations of the mitochondrial genome etc...&#xD;
      Genetic causes represents 50% of moderate to severe, whereas environmental factors&#xD;
      (malnutrition, cultural deprivation,...) plays an important role in mild MR.&#xD;
&#xD;
      The main goal of this study is to get an innovative tool (neuronal distinction of iPSC) that&#xD;
      wil allow to study the functionnal impact of mutations uppon genes probably involved in MR&#xD;
      like MYT1L. The main criteria associated to characterisation of the tool by the trial is the&#xD;
      study of the pluripotency of iPSC obtained and to highlight the mutation of the gene MYT1L in&#xD;
      the iPSC.&#xD;
&#xD;
      Neurons from the iPSC of the patient and his father du patient wille also be morphologically&#xD;
      characterised, but also thanks to the expression of specifically neurals genes.&#xD;
&#xD;
      Characteristics of iPSC and neurons from d'iPSC with MYT1L mutation will be compared among&#xD;
      the patient and his father, in relation with the same cells coming from the two witnesses.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date type="Actual">September 2015</start_date>
  <completion_date type="Actual">September 2017</completion_date>
  <primary_completion_date type="Actual">June 2017</primary_completion_date>
  <phase>N/A</phase>
  <study_type>Interventional</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <allocation>Non-Randomized</allocation>
    <intervention_model>Parallel Assignment</intervention_model>
    <primary_purpose>Other</primary_purpose>
    <masking>None (Open Label)</masking>
  </study_design_info>
  <primary_outcome>
    <measure>iPSC caracterization from human fibroblast with MYT1L mutation</measure>
    <time_frame>Half an hour</time_frame>
    <description>Skin sampling under local anesthesia. Evaluation of iPSC gene expression for their pluripotency.</description>
  </primary_outcome>
  <number_of_arms>3</number_of_arms>
  <enrollment type="Actual">4</enrollment>
  <condition>Intellectual Deficiency</condition>
  <condition>Asymptomatic Carrier of the Mutation of the Gene MYT1L</condition>
  <condition>Healthy Volunteers</condition>
  <arm_group>
    <arm_group_label>Patient</arm_group_label>
    <arm_group_type>Other</arm_group_type>
  </arm_group>
  <arm_group>
    <arm_group_label>Asymptomatic carrier</arm_group_label>
    <arm_group_type>Other</arm_group_type>
    <description>Father of the patient : asymptomatic carrier of the same mutation</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Two control patients</arm_group_label>
    <arm_group_type>Other</arm_group_type>
  </arm_group>
  <intervention>
    <intervention_type>Procedure</intervention_type>
    <intervention_name>Cutaneous biopsy</intervention_name>
    <description>Under local anesthesia</description>
    <arm_group_label>Asymptomatic carrier</arm_group_label>
    <arm_group_label>Patient</arm_group_label>
    <arm_group_label>Two control patients</arm_group_label>
  </intervention>
  <eligibility>
    <criteria>
      <textblock>
        Inclusion Criteria :&#xD;
&#xD;
          -  Patient with an intellectual deficiency and/or associated signs that received a&#xD;
             chromosomic analysis by CGH-array revealing a variant of unknown signification&#xD;
             involvingone or more genes candidates for mental retardation.&#xD;
&#xD;
          -  Certificate of genetic genetic counselling and signed consent.&#xD;
&#xD;
          -  Under 18 persons may be necessary because intellectual deficiency is often diagnosed&#xD;
             before the adult age.&#xD;
&#xD;
          -  Number of cases is very limited in this preliminary study and only one patient showing&#xD;
             a rare mutation of MYT1L gene and his father ( asymptomatic carrier of the same&#xD;
             mutation) will be study.&#xD;
&#xD;
          -  Affiliation to a social security system&#xD;
&#xD;
        Exclusion Criteria :&#xD;
&#xD;
          -  Persons mentionned L1121-5 to L1121-8 of CSP (all protected persons)&#xD;
&#xD;
          -  Persons suffering from acute infections for the practice of cutaneous biopsy under&#xD;
             local anesthesia.&#xD;
&#xD;
          -  Persons showing an hemostasis disorder acquired or induced&#xD;
&#xD;
          -  Persons sous traitement antiagrégant anticoagulant&#xD;
&#xD;
          -  Persons with a mutation in th gene MYT1L&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>N/A</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Pierre Simon Jouk, Professor</last_name>
    <role>Principal Investigator</role>
    <affiliation>Grenoble Hospital University</affiliation>
  </overall_official>
  <location>
    <facility>
      <name>UniversityHospitalGrenoble</name>
      <address>
        <city>La Tronche</city>
        <zip>38700</zip>
        <country>France</country>
      </address>
    </facility>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <reference>
    <citation>Bonnet C, Leheup B, Beri M, Philippe C, Gregoire MJ, Jonveaux P. Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation. Am J Med Genet A. 2009 Jun;149A(6):1280-9. doi: 10.1002/ajmg.a.32858.</citation>
    <PMID>19449417</PMID>
  </reference>
  <reference>
    <citation>Brosco JP, Mattingly M, Sanders LM. Impact of specific medical interventions on reducing the prevalence of mental retardation. Arch Pediatr Adolesc Med. 2006 Mar;160(3):302-9. doi: 10.1001/archpedi.160.3.302.</citation>
    <PMID>16520451</PMID>
  </reference>
  <reference>
    <citation>Chambers SM, Fasano CA, Papapetrou EP, Tomishima M, Sadelain M, Studer L. Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling. Nat Biotechnol. 2009 Mar;27(3):275-80. doi: 10.1038/nbt.1529. Epub 2009 Mar 1. Erratum In: Nat Biotechnol. 2009 May;27(5):485.</citation>
    <PMID>19252484</PMID>
  </reference>
  <reference>
    <citation>Chanda S, Marro S, Wernig M, Sudhof TC. Neurons generated by direct conversion of fibroblasts reproduce synaptic phenotype caused by autism-associated neuroligin-3 mutation. Proc Natl Acad Sci U S A. 2013 Oct 8;110(41):16622-7. doi: 10.1073/pnas.1316240110. Epub 2013 Sep 17.</citation>
    <PMID>24046374</PMID>
  </reference>
  <reference>
    <citation>Chiurazzi P, Schwartz CE, Gecz J, Neri G. XLMR genes: update 2007. Eur J Hum Genet. 2008 Apr;16(4):422-34. doi: 10.1038/sj.ejhg.5201994. Epub 2008 Jan 16.</citation>
    <PMID>18197188</PMID>
  </reference>
  <reference>
    <citation>Chiyonobu T, Hayashi S, Kobayashi K, Morimoto M, Miyanomae Y, Nishimura A, Nishimoto A, Ito C, Imoto I, Sugimoto T, Jia Z, Inazawa J, Toda T. Partial tandem duplication of GRIA3 in a male with mental retardation. Am J Med Genet A. 2007 Jul 1;143A(13):1448-55. doi: 10.1002/ajmg.a.31798.</citation>
    <PMID>17568425</PMID>
  </reference>
  <reference>
    <citation>Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ. Partial ATRX gene duplication causes ATR-X syndrome. Am J Med Genet A. 2009 Oct;149A(10):2317-20. doi: 10.1002/ajmg.a.33006. No abstract available.</citation>
    <PMID>19764021</PMID>
  </reference>
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    <citation>Doco-Fenzy M, Leroy C, Schneider A, Petit F, Delrue MA, Andrieux J, Perrin-Sabourin L, Landais E, Aboura A, Puechberty J, Girard M, Tournaire M, Sanchez E, Rooryck C, Ameil A, Goossens M, Jonveaux P, Lefort G, Taine L, Cailley D, Gaillard D, Leheup B, Sarda P, Genevieve D. Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes. Eur J Hum Genet. 2014 Apr;22(4):471-9. doi: 10.1038/ejhg.2013.189. Epub 2013 Oct 16.</citation>
    <PMID>24129437</PMID>
  </reference>
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    <citation>Froyen G, Belet S, Martinez F, Santos-Reboucas CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P. Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010. Epub 2012 Jul 26.</citation>
    <PMID>22840365</PMID>
  </reference>
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    <citation>Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.</citation>
    <PMID>21681106</PMID>
  </reference>
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    <citation>Kleinjan DA, van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet. 2005 Jan;76(1):8-32. doi: 10.1086/426833. Epub 2004 Nov 17.</citation>
    <PMID>15549674</PMID>
  </reference>
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    <citation>Larson SA, Lakin KC, Anderson L, Kwak N, Lee JH, Anderson D. Prevalence of mental retardation and developmental disabilities: estimates from the 1994/1995 National Health Interview Survey Disability Supplements. Am J Ment Retard. 2001 May;106(3):231-52.</citation>
    <PMID>11408960</PMID>
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    <citation>Raff ML, Craigen WJ, Smith LT, Keene DR, Byers PH. Partial COL1A2 gene duplication produces features of osteogenesis imperfecta and Ehlers-Danlos syndrome type VII. Hum Genet. 2000 Jan;106(1):19-28. doi: 10.1007/s004390051004.</citation>
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    <citation>Pang ZP, Yang N, Vierbuchen T, Ostermeier A, Fuentes DR, Yang TQ, Citri A, Sebastiano V, Marro S, Sudhof TC, Wernig M. Induction of human neuronal cells by defined transcription factors. Nature. 2011 May 26;476(7359):220-3. doi: 10.1038/nature10202.</citation>
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  </reference>
  <verification_date>October 2018</verification_date>
  <study_first_submitted>July 28, 2016</study_first_submitted>
  <study_first_submitted_qc>November 29, 2016</study_first_submitted_qc>
  <study_first_posted type="Estimate">December 2, 2016</study_first_posted>
  <last_update_submitted>October 9, 2018</last_update_submitted>
  <last_update_submitted_qc>October 9, 2018</last_update_submitted_qc>
  <last_update_posted type="Actual">October 12, 2018</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Mental retardation MR</keyword>
  <keyword>IQ</keyword>
  <keyword>Mutation</keyword>
  <keyword>Gene MYT1L</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Intellectual Disability</mesh_term>
  </condition_browse>
  <!-- Results have not yet been posted for this study                                          -->
</clinical_study>


download date: ClinicalTrials.gov processed this data on September 20, 2023
link text: Link to the current ClinicalTrials.gov record.
url: https://clinicaltrials.gov/ct2/show/NCT02980302
org study id: 38RC14.181
nct id: NCT02980302
lead sponsor: 
has dmc: No
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.
allocation: Non-Randomized
intervention model: Parallel Assignment
primary purpose: Other
masking: None (Open Label)
measure: iPSC caracterization from human fibroblast with MYT1L mutation
time frame: Half an hour
description: Skin sampling under local anesthesia. Evaluation of iPSC gene expression for their pluripotency.
arm group label: Patient
arm group type: Other
arm group label: Asymptomatic carrier
arm group type: Other
description: Father of the patient : asymptomatic carrier of the same mutation
arm group label: Two control patients
arm group type: Other
intervention type: Procedure
intervention name: Cutaneous biopsy
description: Under local anesthesia
arm group label: Asymptomatic carrier
arm group label: Patient
arm group label: Two control patients
criteria: 
gender: All
minimum age: N/A
maximum age: N/A
healthy volunteers: Accepts Healthy Volunteers
last name: Pierre Simon Jouk, Professor
role: Principal Investigator
affiliation: Grenoble Hospital University
facility: 
country: France
citation: Bonnet C, Leheup B, Beri M, Philippe C, Gregoire MJ, Jonveaux P. Aberrant GRIA3 transcripts with multi-exon duplications in a family with X-linked mental retardation. Am J Med Genet A. 2009 Jun;149A(6):1280-9. doi: 10.1002/ajmg.a.32858.
PMID: 19449417
citation: Brosco JP, Mattingly M, Sanders LM. Impact of specific medical interventions on reducing the prevalence of mental retardation. Arch Pediatr Adolesc Med. 2006 Mar;160(3):302-9. doi: 10.1001/archpedi.160.3.302.
PMID: 16520451
citation: Chambers SM, Fasano CA, Papapetrou EP, Tomishima M, Sadelain M, Studer L. Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling. Nat Biotechnol. 2009 Mar;27(3):275-80. doi: 10.1038/nbt.1529. Epub 2009 Mar 1. Erratum In: Nat Biotechnol. 2009 May;27(5):485.
PMID: 19252484
citation: Chanda S, Marro S, Wernig M, Sudhof TC. Neurons generated by direct conversion of fibroblasts reproduce synaptic phenotype caused by autism-associated neuroligin-3 mutation. Proc Natl Acad Sci U S A. 2013 Oct 8;110(41):16622-7. doi: 10.1073/pnas.1316240110. Epub 2013 Sep 17.
PMID: 24046374
citation: Chiurazzi P, Schwartz CE, Gecz J, Neri G. XLMR genes: update 2007. Eur J Hum Genet. 2008 Apr;16(4):422-34. doi: 10.1038/sj.ejhg.5201994. Epub 2008 Jan 16.
PMID: 18197188
citation: Chiyonobu T, Hayashi S, Kobayashi K, Morimoto M, Miyanomae Y, Nishimura A, Nishimoto A, Ito C, Imoto I, Sugimoto T, Jia Z, Inazawa J, Toda T. Partial tandem duplication of GRIA3 in a male with mental retardation. Am J Med Genet A. 2007 Jul 1;143A(13):1448-55. doi: 10.1002/ajmg.a.31798.
PMID: 17568425
citation: Cohn DM, Pagon RA, Hudgins L, Schwartz CE, Stevenson RE, Friez MJ. Partial ATRX gene duplication causes ATR-X syndrome. Am J Med Genet A. 2009 Oct;149A(10):2317-20. doi: 10.1002/ajmg.a.33006. No abstract available.
PMID: 19764021
citation: Doco-Fenzy M, Leroy C, Schneider A, Petit F, Delrue MA, Andrieux J, Perrin-Sabourin L, Landais E, Aboura A, Puechberty J, Girard M, Tournaire M, Sanchez E, Rooryck C, Ameil A, Goossens M, Jonveaux P, Lefort G, Taine L, Cailley D, Gaillard D, Leheup B, Sarda P, Genevieve D. Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes. Eur J Hum Genet. 2014 Apr;22(4):471-9. doi: 10.1038/ejhg.2013.189. Epub 2013 Oct 16.
PMID: 24129437
citation: Froyen G, Belet S, Martinez F, Santos-Reboucas CB, Declercq M, Verbeeck J, Donckers L, Berland S, Mayo S, Rosello M, Pimentel MM, Fintelman-Rodrigues N, Hovland R, Rodrigues dos Santos S, Raymond FL, Bose T, Corbett MA, Sheffield L, van Ravenswaaij-Arts CM, Dijkhuizen T, Coutton C, Satre V, Siu V, Marynen P. Copy-number gains of HUWE1 due to replication- and recombination-based rearrangements. Am J Hum Genet. 2012 Aug 10;91(2):252-64. doi: 10.1016/j.ajhg.2012.06.010. Epub 2012 Jul 26.
PMID: 22840365
citation: Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.
PMID: 21681106
citation: Kleinjan DA, van Heyningen V. Long-range control of gene expression: emerging mechanisms and disruption in disease. Am J Hum Genet. 2005 Jan;76(1):8-32. doi: 10.1086/426833. Epub 2004 Nov 17.
PMID: 15549674
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