<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/NCT01703676</url>
  </required_header>
  <id_info>
    <org_study_id>EpigenMetabDisordKlinefelter</org_study_id>
    <nct_id>NCT01703676</nct_id>
  </id_info>
  <brief_title>Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome</brief_title>
  <acronym>IZKF-CRA03-09</acronym>
  <official_title>Klinefelter Syndrome: Do the Parental Origin and Epigenetic Profile of the Supernumerary X Chromosome Determine Phenotype, Morbidity, Inflammatory Status and Cardiovascular Risk?</official_title>
  <sponsors>
    <lead_sponsor>
      <agency>University Hospital Muenster</agency>
      <agency_class>Other</agency_class>
    </lead_sponsor>
  </sponsors>
  <source>University Hospital Muenster</source>
  <oversight_info>
    <has_dmc>Yes</has_dmc>
  </oversight_info>
  <brief_summary>
    <textblock>
      This study will elucidate how the parental origin of the X-chromosome influences health&#xD;
      status as well as metabolic fate in Klinefelter patients. Epigenetics and&#xD;
      transcriptome-research will be directly linked to the metabolic and inflammatory pattern of&#xD;
      actual patients to improve care for them. The Klinefelter Syndrome is one of the most common&#xD;
      genetic disorders in men. The patients have one supernumerary X-chromosome, which is partly&#xD;
      active and disturbs a normal male development. Testosterone deficiency in form of primary&#xD;
      hypogonadism is a common feature in these men. Such a condition promotes clinically relevant&#xD;
      metabolic patterns related to a pro-inflammatory status and diabetes mellitus type 2 (insulin&#xD;
      resis-tance), cardiovascular disease as well as infertility. However, the variety of&#xD;
      pathologies is pro-nounced between patients and low testosterone concentrations cannot fully&#xD;
      explain the wide scope of pathologies in these men. Some patients become clinically obvious&#xD;
      during puberty and adoles-cence, some in their thirties or later and all exhibit a huge&#xD;
      variation in phenotype. Switching on and off of specific genes on the X-chromosome is&#xD;
      differential, depending on the origin either from the maternal or paternal side. Hence, an&#xD;
      influence on the clinical picture is hypothesised. Thus, key targets are clarification of the&#xD;
      parental origin of the supernumerary X chromosome and elucidation of methylation and&#xD;
      expression profile of pivotal X-chromosomal genes. These will be related to clinically&#xD;
      relevant metabolic and inflammatory patterns as well as fertility to identify individual&#xD;
      risks as well as treatment strategies for Klinefelter patients.&#xD;
    </textblock>
  </brief_summary>
  <overall_status>Completed</overall_status>
  <start_date>March 2010</start_date>
  <completion_date type="Actual">August 2012</completion_date>
  <primary_completion_date type="Actual">May 2012</primary_completion_date>
  <study_type>Observational</study_type>
  <has_expanded_access>No</has_expanded_access>
  <study_design_info>
    <observational_model>Case-Control</observational_model>
    <time_perspective>Prospective</time_perspective>
  </study_design_info>
  <number_of_groups>4</number_of_groups>
  <enrollment type="Actual">300</enrollment>
  <condition>Klinefelter Syndrome, Hypogonadism</condition>
  <arm_group>
    <arm_group_label>Patients</arm_group_label>
    <description>Klinefelter Patients</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Parents</arm_group_label>
    <description>Parents of Klinefelter Patients</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Controls M</arm_group_label>
    <description>Healthy Male Control with normal karyotype</description>
  </arm_group>
  <arm_group>
    <arm_group_label>Controls F</arm_group_label>
    <description>Healthy female controls</description>
  </arm_group>
  <biospec_retention>Samples With DNA</biospec_retention>
  <biospec_descr>
    <textblock>
      Blood, Testicular Tissue, Mouth Epithelium&#xD;
    </textblock>
  </biospec_descr>
  <eligibility>
    <study_pop>
      <textblock>
        Patients, their parents, male controls, female controls&#xD;
      </textblock>
    </study_pop>
    <sampling_method>Probability Sample</sampling_method>
    <criteria>
      <textblock>
        Inclusion Criteria:&#xD;
&#xD;
        Klinefelter Syndrome&#xD;
&#xD;
        Exclusion Criteria:&#xD;
&#xD;
        Mosaic status&#xD;
      </textblock>
    </criteria>
    <gender>All</gender>
    <minimum_age>18 Years</minimum_age>
    <maximum_age>70 Years</maximum_age>
    <healthy_volunteers>Accepts Healthy Volunteers</healthy_volunteers>
  </eligibility>
  <overall_official>
    <last_name>Michael Zitzmann, MD, PhD</last_name>
    <role>Principal Investigator</role>
    <affiliation>University Hospital Muenster</affiliation>
  </overall_official>
  <verification_date>October 2012</verification_date>
  <study_first_submitted>October 5, 2012</study_first_submitted>
  <study_first_submitted_qc>October 5, 2012</study_first_submitted_qc>
  <study_first_posted type="Estimate">October 10, 2012</study_first_posted>
  <last_update_submitted>October 12, 2012</last_update_submitted>
  <last_update_submitted_qc>October 12, 2012</last_update_submitted_qc>
  <last_update_posted type="Estimate">October 15, 2012</last_update_posted>
  <responsible_party>
    <responsible_party_type>Principal Investigator</responsible_party_type>
    <investigator_affiliation>University Hospital Muenster</investigator_affiliation>
    <investigator_full_name>Zitzmann</investigator_full_name>
    <investigator_title>Clinical Andrology</investigator_title>
  </responsible_party>
  <keyword>Hypogonadism, Klinefelter Syndrome, Cardiovascular Risk, Epigenetics, Methylation of Genes</keyword>
  <keyword>Cardiovascular risk factors</keyword>
  <keyword>Gonadal status</keyword>
  <keyword>Gene expression</keyword>
  <keyword>Methylation</keyword>
  <condition_browse>
    <!-- CAUTION:  The following MeSH terms are assigned with an imperfect algorithm            -->
    <mesh_term>Klinefelter Syndrome</mesh_term>
    <mesh_term>Hypogonadism</mesh_term>
    <mesh_term>Syndrome</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/NCT01703676
org study id: EpigenMetabDisordKlinefelter
nct id: NCT01703676
lead sponsor: 
has dmc: Yes
This study will elucidate how the parental origin of the X-chromosome influences health
      status as well as metabolic fate in Klinefelter patients. Epigenetics and
      transcriptome-research will be directly linked to the metabolic and inflammatory pattern of
      actual patients to improve care for them. The Klinefelter Syndrome is one of the most common
      genetic disorders in men. The patients have one supernumerary X-chromosome, which is partly
      active and disturbs a normal male development. Testosterone deficiency in form of primary
      hypogonadism is a common feature in these men. Such a condition promotes clinically relevant
      metabolic patterns related to a pro-inflammatory status and diabetes mellitus type 2 (insulin
      resis-tance), cardiovascular disease as well as infertility. However, the variety of
      pathologies is pro-nounced between patients and low testosterone concentrations cannot fully
      explain the wide scope of pathologies in these men. Some patients become clinically obvious
      during puberty and adoles-cence, some in their thirties or later and all exhibit a huge
      variation in phenotype. Switching on and off of specific genes on the X-chromosome is
      differential, depending on the origin either from the maternal or paternal side. Hence, an
      influence on the clinical picture is hypothesised. Thus, key targets are clarification of the
      parental origin of the supernumerary X chromosome and elucidation of methylation and
      expression profile of pivotal X-chromosomal genes. These will be related to clinically
      relevant metabolic and inflammatory patterns as well as fertility to identify individual
      risks as well as treatment strategies for Klinefelter patients.
observational model: Case-Control
time perspective: Prospective
arm group label: Patients
description: Klinefelter Patients
arm group label: Parents
description: Parents of Klinefelter Patients
arm group label: Controls M
description: Healthy Male Control with normal karyotype
arm group label: Controls F
description: Healthy female controls
Blood, Testicular Tissue, Mouth Epithelium
study pop: 
sampling method: Probability Sample
criteria: 
gender: All
minimum age: 18 Years
maximum age: 70 Years
healthy volunteers: Accepts Healthy Volunteers
last name: Michael Zitzmann, MD, PhD
role: Principal Investigator
affiliation: University Hospital Muenster
responsible party type: Principal Investigator
investigator affiliation: University Hospital Muenster
investigator full name: Zitzmann
investigator title: Clinical Andrology
mesh term: Klinefelter Syndrome
mesh term: Hypogonadism
mesh term: Syndrome