<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/NCT01663675</url>
  </required_header>
  <id_info>
    <org_study_id>5249</org_study_id>
    <nct_id>NCT01663675</nct_id>
  </id_info>
  <brief_title>Trisomy 21 in Adulthood</brief_title>
  <official_title>Trisomy 21 in Adulthood. Evaluation of Health and Social State in Alsace (North-eastern France)</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital, Strasbourg, France</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University Hospital, Strasbourg, France</source>
  <oversight_info>
    <has_dmc>No</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      Trisomy 21 or Down syndrome, is the most common genetic cause of cognitive disability.&#xD;
      Currently, in Alsace, the birth prevalence is about 1 in 1600 live births, which means 10&#xD;
      liveborns with Down syndrome each year.If screening and prenatal diagnosis of children with&#xD;
      trisomy 21, as well as medical care, social and educational integration in childhood was the&#xD;
      subject of much research and has led to remarkable progress in terms of health and medical&#xD;
      care, it is not the same for the knowledge about adolescents and adults.Despite a more and&#xD;
      more higher life expectancy, the evolution of trisomy 21 in adulthood is often marked by a&#xD;
      deterioration in health status, with a regression of acquired psychomotor skills, often&#xD;
      attributed only to the precocious occurrence of Alzheimer's dementia. Nevertheless, it seems&#xD;
      that the diagnosis of Alzheimer's dementia is often overdiagnosed, and it is well established&#xD;
      that only a fraction of Down syndrome patients will develop this type of dementia. Too often&#xD;
      a decline in general health, behavioral changes and decreased cognitive abilities are only&#xD;
      attributed to the Down syndrome with an early dementia without looking for an underlying,&#xD;
      potentially curable, disease.This study aims to better evaluate the health and social status&#xD;
      of 100 adults with trisomy 21 in Alsace. The medical evaluation will include a comprehensive&#xD;
      assessment of health status and quality of life conducted by the geneticist, a cardiac,&#xD;
      sensory, hormonal, biological and radiological evaluation. A speech-language and psychomotor&#xD;
      evaluation will also be conducted. A psychiatric consultation and a psychometric assessment&#xD;
      will aim to assess cognitive function and to search for associated mood disorders.The&#xD;
      expected results are to better know the natural history of trisomy 21 in adulthood, with the&#xD;
      determination of the frequency of morbid events specific to adulthood, and also to improve&#xD;
      the medical and paramedical care with the establishment of a monitoring program to prevent&#xD;
      the occurrence of these morbid events.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Unknown status</overall_status>
  <last_known_status>Recruiting</last_known_status>
  <start_date>November 2014</start_date>
  <completion_date type="Anticipated">October 2019</completion_date>
  <primary_completion_date type="Anticipated">October 2019</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Cohort</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <number_of_groups>1</number_of_groups>
  <enrollment type="Anticipated">80</enrollment>
  <condition>Down Syndrome</condition>
  <arm_group>
    <arm_group_label>Trisomy 21 (Down syndrome)</arm_group_label>
    <description>Trisomy 21 (Down syndrome)</description>
  </arm_group>
  <intervention>
    <intervention_type>Genetic</intervention_type>
    <intervention_name>karyotype</intervention_name>
    <arm_group_label>Trisomy 21 (Down syndrome)</arm_group_label>
  </intervention>
  <eligibility>
    <study_pop>
      <textblock>
        Cases with trisomy 21 older than 18 years living in Alsace Region (North-eastern France)&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Non-Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
          -  Man or woman older than 18 years&#xD;
&#xD;
          -  Down syndrome (clinical diagnosis, eventually confirmed by blood karyotype)&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
          -  children&#xD;
&#xD;
          -  pregnancy&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>N/A</maximum_age>
    <healthy_volunteers>No</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>ALEMBIK Yves, MD</last_name>
    <role>Principal Investigator</role>
    <affiliation>Hôpitaux Universitaires de Strasbourg</affiliation>
  </overall_official>
  <overall_contact>
    <last_name>ALEMBIK Yves, MD</last_name>
    <phone>33.3.88.12.50.89</phone>
    <email>yves.alembik@chru-strasbourg.fr</email>
  </overall_contact>
  <location>
    <facility>
      <name>Hôpitaux Universitaires de Strasbourg</name>
      <address>
        <city>Strasbourg</city>
        <zip>67091</zip>
        <country>France</country>
      </address>
    </facility>
    <status>Recruiting</status>
    <contact>
      <last_name>ALEMBIK Yves, MD</last_name>
      <phone>33.3.88.12.50.89</phone>
      <email>yves.alembik@chru-strasbourg.fr</email>
    </contact>
    <investigator>
      <last_name>ALEMBIK Yves, MD</last_name>
      <role>Principal Investigator</role>
    </investigator>
    <investigator>
      <last_name>SCHAEFER Elise, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>EL CHEHADEH Salima, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>DOLLFUS Hélène, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>TIMBOLSCHI Dana Luiza, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>CHRISTMANN Dominique, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>MANIERE Marie-Cécile, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>DAVIDEAU Jean-Luc, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>KOENIG Anne, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>ROUL Gérard José, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>PETIT-EISENMANN Hélène, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>BLOCH-ZUPAN Agnès, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>BERNA Fabrice, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>PRADIGNAC Alain, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>GUFFROY Aurélien, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>KREMER Stéphane, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>PERDOMO-TRUJILLO Yaumara, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>KORGANOW Anne-Sophie, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>BLANC Frédéric, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>GAZZANO Elise, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>BRUN Isabelle, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
    <investigator>
      <last_name>HIEBEL Jean-Michel, MD</last_name>
      <role>Sub-Investigator</role>
    </investigator>
  </location>
  <location_countries>
    <country>France</country>
  </location_countries>
  <verification_date>June 2019</verification_date>
  <study_first_submitted>August 8, 2012</study_first_submitted>
  <study_first_submitted_qc>August 8, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">August 13, 2012</study_first_posted>
  <last_update_submitted>June 20, 2019</last_update_submitted>
  <last_update_submitted_qc>June 20, 2019</last_update_submitted_qc>
  <last_update_posted type="Actual">June 21, 2019</last_update_posted>
  <responsible_party>
    <responsible_party_type>Sponsor</responsible_party_type>
  </responsible_party>
  <keyword>Down syndrome</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Down Syndrome</mesh_term>
    <mesh_term>Trisomy</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/NCT01663675
org study id: 5249
nct id: NCT01663675
lead sponsor: 
has dmc: No
Trisomy 21 or Down syndrome, is the most common genetic cause of cognitive disability.
      Currently, in Alsace, the birth prevalence is about 1 in 1600 live births, which means 10
      liveborns with Down syndrome each year.If screening and prenatal diagnosis of children with
      trisomy 21, as well as medical care, social and educational integration in childhood was the
      subject of much research and has led to remarkable progress in terms of health and medical
      care, it is not the same for the knowledge about adolescents and adults.Despite a more and
      more higher life expectancy, the evolution of trisomy 21 in adulthood is often marked by a
      deterioration in health status, with a regression of acquired psychomotor skills, often
      attributed only to the precocious occurrence of Alzheimer's dementia. Nevertheless, it seems
      that the diagnosis of Alzheimer's dementia is often overdiagnosed, and it is well established
      that only a fraction of Down syndrome patients will develop this type of dementia. Too often
      a decline in general health, behavioral changes and decreased cognitive abilities are only
      attributed to the Down syndrome with an early dementia without looking for an underlying,
      potentially curable, disease.This study aims to better evaluate the health and social status
      of 100 adults with trisomy 21 in Alsace. The medical evaluation will include a comprehensive
      assessment of health status and quality of life conducted by the geneticist, a cardiac,
      sensory, hormonal, biological and radiological evaluation. A speech-language and psychomotor
      evaluation will also be conducted. A psychiatric consultation and a psychometric assessment
      will aim to assess cognitive function and to search for associated mood disorders.The
      expected results are to better know the natural history of trisomy 21 in adulthood, with the
      determination of the frequency of morbid events specific to adulthood, and also to improve
      the medical and paramedical care with the establishment of a monitoring program to prevent
      the occurrence of these morbid events.
observational model: Cohort
time perspective: Prospective
arm group label: Trisomy 21 (Down syndrome)
description: Trisomy 21 (Down syndrome)
intervention type: Genetic
intervention name: karyotype
arm group label: Trisomy 21 (Down syndrome)
study pop: 
sampling method: Non-Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: N/A
healthy volunteers: No
last name: ALEMBIK Yves, MD
role: Principal Investigator
affiliation: Hôpitaux Universitaires de Strasbourg
last name: ALEMBIK Yves, MD
phone: 33.3.88.12.50.89
email: yves.alembik@chru-strasbourg.fr
facility: 
status: Recruiting
contact: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
investigator: 
country: France
responsible party type: Sponsor
mesh term: Down Syndrome
mesh term: Trisomy